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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: 4-76075909-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76075909&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76075909,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001377173.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "NM_001130016.3",
"protein_id": "NP_001123488.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": "ENST00000355810.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130016.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000355810.9",
"protein_id": "ENSP00000348064.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": "NM_001130016.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355810.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000511188.2",
"protein_id": "ENSP00000422249.2",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 400,
"cds_start": 20,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511188.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000349321.7",
"protein_id": "ENSP00000304313.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 378,
"cds_start": 20,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349321.7"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000341029.9",
"protein_id": "ENSP00000343843.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 367,
"cds_start": 20,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341029.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000513122.5",
"protein_id": "ENSP00000422287.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 200,
"cds_start": 20,
"cds_end": null,
"cds_length": 605,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513122.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000513353.5",
"protein_id": "ENSP00000421345.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 106,
"cds_start": 20,
"cds_end": null,
"cds_length": 322,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513353.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "n.29A>C",
"hgvs_p": null,
"transcript": "ENST00000395688.7",
"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": 323,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000395688.7"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "n.29A>C",
"hgvs_p": null,
"transcript": "ENST00000506667.5",
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506667.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "n.136A>C",
"hgvs_p": null,
"transcript": "ENST00000513494.5",
"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": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513494.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960240.1",
"protein_id": "ENSP00000630299.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 430,
"cds_start": 20,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960240.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "NM_001377173.1",
"protein_id": "NP_001364102.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 400,
"cds_start": 20,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377173.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "NM_001437636.1",
"protein_id": "NP_001424565.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 398,
"cds_start": 20,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437636.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960248.1",
"protein_id": "ENSP00000630307.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 394,
"cds_start": 20,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960248.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000883927.1",
"protein_id": "ENSP00000553986.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883927.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960244.1",
"protein_id": "ENSP00000630303.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960244.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960245.1",
"protein_id": "ENSP00000630304.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960245.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960251.1",
"protein_id": "ENSP00000630310.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960251.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960257.1",
"protein_id": "ENSP00000630316.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960257.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000883929.1",
"protein_id": "ENSP00000553988.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 388,
"cds_start": 20,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883929.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "ENST00000960252.1",
"protein_id": "ENSP00000630311.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 387,
"cds_start": 20,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960252.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ART3",
"gene_hgnc_id": 725,
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala",
"transcript": "NM_001179.6",
"protein_id": "NP_001170.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 378,
"cds_start": 20,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001179.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001377173.1",
"gene_symbol": "ART3",
"hgnc_id": 725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20A>C",
"hgvs_p": "p.Glu7Ala"
}
],
"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
}