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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: 12-68721868-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68721868&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68721868,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020401.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "NM_020401.4",
"protein_id": "NP_065134.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 925,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229179.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020401.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000229179.9",
"protein_id": "ENSP00000229179.4",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 925,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020401.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229179.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "n.*882G>A",
"hgvs_p": null,
"transcript": "ENST00000535718.5",
"protein_id": "ENSP00000445567.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000535718.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "n.*882G>A",
"hgvs_p": null,
"transcript": "ENST00000535718.5",
"protein_id": "ENSP00000445567.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000535718.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Asp466Asn",
"transcript": "ENST00000908487.1",
"protein_id": "ENSP00000578546.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 944,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908487.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Asp455Asn",
"transcript": "ENST00000920340.1",
"protein_id": "ENSP00000590399.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 933,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920340.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000920335.1",
"protein_id": "ENSP00000590394.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 924,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920335.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000920336.1",
"protein_id": "ENSP00000590395.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 924,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920336.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Asp446Asn",
"transcript": "ENST00000920339.1",
"protein_id": "ENSP00000590398.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 924,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920339.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000908484.1",
"protein_id": "ENSP00000578543.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 916,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908484.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Asp427Asn",
"transcript": "ENST00000908485.1",
"protein_id": "ENSP00000578544.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 905,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908485.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Asp423Asn",
"transcript": "ENST00000908483.1",
"protein_id": "ENSP00000578542.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 901,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908483.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Asp418Asn",
"transcript": "NM_001330192.2",
"protein_id": "NP_001317121.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 896,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330192.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Asp418Asn",
"transcript": "ENST00000539906.5",
"protein_id": "ENSP00000441448.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 896,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539906.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Asp423Asn",
"transcript": "ENST00000908488.1",
"protein_id": "ENSP00000578547.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 892,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908488.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000908489.1",
"protein_id": "ENSP00000578548.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 887,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908489.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Asp409Asn",
"transcript": "ENST00000966549.1",
"protein_id": "ENSP00000636608.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 887,
"cds_start": 1225,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966549.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Asp408Asn",
"transcript": "ENST00000908486.1",
"protein_id": "ENSP00000578545.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 886,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908486.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "ENST00000920337.1",
"protein_id": "ENSP00000590396.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 866,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920337.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "ENST00000920338.1",
"protein_id": "ENSP00000590397.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 866,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920338.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000966547.1",
"protein_id": "ENSP00000636606.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 837,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966547.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP107",
"gene_hgnc_id": 29914,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn",
"transcript": "ENST00000966548.1",
"protein_id": "ENSP00000636607.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 828,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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{
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],
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{
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"missense_variant"
],
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"hgvs_c": "c.403G>A",
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{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "NUP107",
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"hgvs_c": "n.70G>A",
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"transcript": "ENST00000538993.1",
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"biotype": "nonsense_mediated_decay",
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}
],
"gene_symbol": "NUP107",
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"dbsnp": "rs1555178358",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9401521682739258,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.599,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.356,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.18,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_020401.4",
"gene_symbol": "NUP107",
"hgnc_id": 29914,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Asp447Asn"
}
],
"clinvar_disease": "Ovarian dysgenesis 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ovarian dysgenesis 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}