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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: 1-41016132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=41016132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 41016132,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144990.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "NM_144990.4",
"protein_id": "NP_659427.3",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "ENST00000302946.13",
"protein_id": "ENSP00000304401.8",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "ENST00000359345.5",
"protein_id": "ENSP00000352299.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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.1543C>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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "NM_001168247.3",
"protein_id": "NP_001161719.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "NM_001377532.1",
"protein_id": "NP_001364461.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "ENST00000439569.2",
"protein_id": "ENSP00000398938.2",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Val397Met",
"transcript": "ENST00000693284.1",
"protein_id": "ENSP00000509946.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 404,
"cds_start": 1189,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Val352Met",
"transcript": "NM_001394331.1",
"protein_id": "NP_001381260.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1054,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Val352Met",
"transcript": "ENST00000372613.6",
"protein_id": "ENSP00000361696.2",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1054,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Val352Met",
"transcript": "ENST00000943707.1",
"protein_id": "ENSP00000613766.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1054,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Val349Met",
"transcript": "ENST00000943708.1",
"protein_id": "ENSP00000613767.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 356,
"cds_start": 1045,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Val341Met",
"transcript": "NM_001300859.2",
"protein_id": "NP_001287788.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 348,
"cds_start": 1021,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Val341Met",
"transcript": "ENST00000372611.5",
"protein_id": "ENSP00000361694.1",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 348,
"cds_start": 1021,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000895831.1",
"protein_id": "ENSP00000565890.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 347,
"cds_start": 1018,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Val292Met",
"transcript": "ENST00000895832.1",
"protein_id": "ENSP00000565891.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 299,
"cds_start": 874,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_005270598.2",
"protein_id": "XP_005270655.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_005270599.3",
"protein_id": "XP_005270656.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_011540945.3",
"protein_id": "XP_011539247.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_011540947.1",
"protein_id": "XP_011539249.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_011540948.3",
"protein_id": "XP_011539250.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFNL1",
"gene_hgnc_id": 26313,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Val400Met",
"transcript": "XM_011540949.3",
"protein_id": "XP_011539251.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 407,
"cds_start": 1198,
"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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"BP6_Moderate"
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"verdict": "Likely_benign",
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{
"score": -4,
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}