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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: 7-77329361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77329361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSAP",
"hgnc_id": 28042,
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_017439.4",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCDC146",
"hgnc_id": 29296,
"hgvs_c": "n.425-35C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000488998.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 237,
"alphamissense_prediction": null,
"alphamissense_score": 0.1018,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006756484508514404,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 854,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_017439.4",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257626.12",
"protein_coding": true,
"protein_id": "NP_059135.2",
"strand": false,
"transcript": "NM_017439.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 854,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000257626.12",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017439.4",
"protein_coding": true,
"protein_id": "ENSP00000257626.7",
"strand": false,
"transcript": "ENST00000257626.12",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 854,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001350896.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337825.1",
"strand": false,
"transcript": "NM_001350896.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 838,
"aa_ref": "V",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000943097.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Val587Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613156.1",
"strand": false,
"transcript": "ENST00000943097.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 836,
"aa_ref": "V",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001350897.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Val551Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337826.1",
"strand": false,
"transcript": "NM_001350897.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 835,
"aa_ref": "V",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001350898.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337827.1",
"strand": false,
"transcript": "NM_001350898.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 820,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880888.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550947.1",
"strand": false,
"transcript": "ENST00000880888.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 806,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001350899.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Val569Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337828.1",
"strand": false,
"transcript": "NM_001350899.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 639,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001350900.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337829.1",
"strand": false,
"transcript": "NM_001350900.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 607,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001350901.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337830.1",
"strand": false,
"transcript": "NM_001350901.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 187,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": 160,
"cds_end": null,
"cds_length": 564,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415112.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396230.2",
"strand": false,
"transcript": "ENST00000415112.2",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 872,
"aa_ref": "V",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011516325.3",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Val587Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514627.1",
"strand": false,
"transcript": "XM_011516325.3",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011516327.3",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Val587Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514629.1",
"strand": false,
"transcript": "XM_011516327.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 788,
"aa_ref": "V",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047420487.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Val551Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276443.1",
"strand": false,
"transcript": "XM_047420487.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 723,
"aa_ref": "V",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047420488.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Val587Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276444.1",
"strand": false,
"transcript": "XM_047420488.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 718,
"aa_ref": "V",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047420489.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Val587Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276445.1",
"strand": false,
"transcript": "XM_047420489.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 657,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011516330.3",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514632.1",
"strand": false,
"transcript": "XM_011516330.3",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017012346.2",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867835.1",
"strand": false,
"transcript": "XM_017012346.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047420490.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276446.1",
"strand": false,
"transcript": "XM_047420490.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 657,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3135,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1974,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047420491.1",
"gene_hgnc_id": 28042,
"gene_symbol": "GSAP",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276447.1",
"strand": false,
"transcript": "XM_047420491.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 657,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1974,
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