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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: 7-2731405-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2731405&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GNA12",
"hgnc_id": 4380,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_007353.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "AMZ1",
"hgnc_id": 22231,
"hgvs_c": "c.*362C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001384741.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.1803,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"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": 0.35397082567214966,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 381,
"aa_ref": "V",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1146,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_007353.3",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275364.8",
"protein_coding": true,
"protein_id": "NP_031379.2",
"strand": false,
"transcript": "NM_007353.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 381,
"aa_ref": "V",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4369,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1146,
"cds_start": 922,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000275364.8",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Val308Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007353.3",
"protein_coding": true,
"protein_id": "ENSP00000275364.3",
"strand": false,
"transcript": "ENST00000275364.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000489665.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "n.550+21589C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489665.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 407,
"aa_ref": "V",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1224,
"cds_start": 1000,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954395.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Val334Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624454.1",
"strand": false,
"transcript": "ENST00000954395.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 398,
"aa_ref": "V",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5503,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1197,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917992.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588051.1",
"strand": false,
"transcript": "ENST00000917992.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1095,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001293092.2",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280021.1",
"strand": false,
"transcript": "NM_001293092.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1095,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917994.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588053.1",
"strand": false,
"transcript": "ENST00000917994.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1095,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954394.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Val291Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624453.1",
"strand": false,
"transcript": "ENST00000954394.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 969,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282441.2",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269370.1",
"strand": false,
"transcript": "NM_001282441.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 322,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 969,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000407904.7",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Val249Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385935.3",
"strand": false,
"transcript": "ENST00000407904.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 305,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 946,
"cds_end": null,
"cds_length": 918,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282440.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269369.1",
"strand": false,
"transcript": "NM_001282440.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 305,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 946,
"cds_end": null,
"cds_length": 918,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000407653.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386054.1",
"strand": false,
"transcript": "ENST00000407653.1",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 259,
"aa_ref": "V",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 737,
"cds_end": null,
"cds_length": 780,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917993.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Val186Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588052.1",
"strand": false,
"transcript": "ENST00000917993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": null,
"cds_end": null,
"cds_length": 801,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384741.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.*362C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371670.1",
"strand": true,
"transcript": "NM_001384741.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384740.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.949-7454C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371669.1",
"strand": true,
"transcript": "NM_001384740.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321766.2",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.948+21589C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308695.1",
"strand": true,
"transcript": "NM_001321766.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011515151.4",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.778+21589C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513453.1",
"strand": true,
"transcript": "XM_011515151.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017011774.3",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.778+21589C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867263.1",
"strand": true,
"transcript": "XM_017011774.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471281.5",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "n.823G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471281.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485329.1",
"gene_hgnc_id": 4380,
"gene_symbol": "GNA12",
"hgvs_c": "n.508G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485329.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000491117.5",
"gene_hgnc_id": 4380,
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]
}