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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-41017802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=41017802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 41017802,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144990.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_144990.4",
"protein_id": "NP_659427.3",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302946.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144990.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000302946.13",
"protein_id": "ENSP00000304401.8",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144990.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302946.13"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000359345.5",
"protein_id": "ENSP00000352299.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359345.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1-AS1",
"gene_hgnc_id": 44126,
"hgvs_c": "n.3213C>T",
"hgvs_p": null,
"transcript": "ENST00000626479.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000626479.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_001168247.3",
"protein_id": "NP_001161719.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168247.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_001377532.1",
"protein_id": "NP_001364461.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377532.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000439569.2",
"protein_id": "ENSP00000398938.2",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439569.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Asp261Asn",
"transcript": "ENST00000693284.1",
"protein_id": "ENSP00000509946.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 404,
"cds_start": 781,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693284.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "NM_001394331.1",
"protein_id": "NP_001381260.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 359,
"cds_start": 790,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394331.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000372613.6",
"protein_id": "ENSP00000361696.2",
"transcript_support_level": 2,
"aa_start": 264,
"aa_end": null,
"aa_length": 359,
"cds_start": 790,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372613.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "ENST00000943707.1",
"protein_id": "ENSP00000613766.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 359,
"cds_start": 790,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943707.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Asp261Asn",
"transcript": "ENST00000943708.1",
"protein_id": "ENSP00000613767.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 356,
"cds_start": 781,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943708.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Asp205Asn",
"transcript": "NM_001300859.2",
"protein_id": "NP_001287788.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 348,
"cds_start": 613,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300859.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Asp205Asn",
"transcript": "ENST00000372611.5",
"protein_id": "ENSP00000361694.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 348,
"cds_start": 613,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372611.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn",
"transcript": "ENST00000895831.1",
"protein_id": "ENSP00000565890.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 347,
"cds_start": 610,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895831.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Asp204Asn",
"transcript": "ENST00000895832.1",
"protein_id": "ENSP00000565891.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 299,
"cds_start": 610,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895832.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_005270598.2",
"protein_id": "XP_005270655.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270598.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_005270599.3",
"protein_id": "XP_005270656.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270599.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_011540945.3",
"protein_id": "XP_011539247.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540945.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_011540947.1",
"protein_id": "XP_011539249.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540947.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_011540948.3",
"protein_id": "XP_011539250.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540948.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn",
"transcript": "XM_011540949.3",
"protein_id": "XP_011539251.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 407,
"cds_start": 790,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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{
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],
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"gene_symbol": "SLFNL1",
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"transcript": "XM_024453869.2",
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"feature": "XM_024453869.2"
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{
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"strand": true,
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],
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"gene_symbol": "SLFNL1-AS1",
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"hgvs_c": "n.3213C>T",
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"transcript": "NR_037868.1",
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_037868.1"
}
],
"gene_symbol": "SLFNL1",
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"dbsnp": "rs200423444",
"frequency_reference_population": 0.0000018731783,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.9001e-7,
"gnomad_genomes_af": 0.0000131318,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6786484718322754,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.765,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144990.4",
"gene_symbol": "SLFNL1",
"hgnc_id": 26313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Asp264Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000626479.1",
"gene_symbol": "SLFNL1-AS1",
"hgnc_id": 44126,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3213C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}