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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: 17-44853364-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44853364&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44853364,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_004247.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "NM_004247.4",
"protein_id": "NP_004238.3",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426333.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004247.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000426333.7",
"protein_id": "ENSP00000392094.1",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426333.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2661C>A",
"hgvs_p": "p.Tyr887*",
"transcript": "ENST00000969864.1",
"protein_id": "ENSP00000639923.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2661,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969864.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2517C>A",
"hgvs_p": "p.Tyr839*",
"transcript": "ENST00000880576.1",
"protein_id": "ENSP00000550635.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 980,
"cds_start": 2517,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880576.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2499C>A",
"hgvs_p": "p.Tyr833*",
"transcript": "ENST00000925102.1",
"protein_id": "ENSP00000595161.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 974,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925102.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2499C>A",
"hgvs_p": "p.Tyr833*",
"transcript": "ENST00000969865.1",
"protein_id": "ENSP00000639924.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 974,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969865.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "NM_001258353.2",
"protein_id": "NP_001245282.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258353.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000591382.5",
"protein_id": "ENSP00000467805.1",
"transcript_support_level": 2,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591382.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000880575.1",
"protein_id": "ENSP00000550634.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880575.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000880577.1",
"protein_id": "ENSP00000550636.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880577.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000969866.1",
"protein_id": "ENSP00000639925.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 972,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969866.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2463C>A",
"hgvs_p": "p.Tyr821*",
"transcript": "NM_001258354.2",
"protein_id": "NP_001245283.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 962,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258354.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2463C>A",
"hgvs_p": "p.Tyr821*",
"transcript": "ENST00000592576.5",
"protein_id": "ENSP00000465058.1",
"transcript_support_level": 2,
"aa_start": 821,
"aa_end": null,
"aa_length": 962,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592576.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2457C>A",
"hgvs_p": "p.Tyr819*",
"transcript": "ENST00000925103.1",
"protein_id": "ENSP00000595162.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 960,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925103.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2445C>A",
"hgvs_p": "p.Tyr815*",
"transcript": "ENST00000880574.1",
"protein_id": "ENSP00000550633.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 956,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880574.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2430C>A",
"hgvs_p": "p.Tyr810*",
"transcript": "ENST00000925105.1",
"protein_id": "ENSP00000595164.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 951,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925105.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000969868.1",
"protein_id": "ENSP00000639927.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 949,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969868.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2391C>A",
"hgvs_p": "p.Tyr797*",
"transcript": "ENST00000969867.1",
"protein_id": "ENSP00000639926.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 938,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969867.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2388C>A",
"hgvs_p": "p.Tyr796*",
"transcript": "NM_001142605.2",
"protein_id": "NP_001136077.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 937,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142605.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2388C>A",
"hgvs_p": "p.Tyr796*",
"transcript": "ENST00000402521.7",
"protein_id": "ENSP00000385873.2",
"transcript_support_level": 2,
"aa_start": 796,
"aa_end": null,
"aa_length": 937,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402521.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2493C>A",
"hgvs_p": "p.Tyr831*",
"transcript": "ENST00000925104.1",
"protein_id": "ENSP00000595163.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 936,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925104.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2352C>A",
"hgvs_p": "p.Tyr784*",
"transcript": "ENST00000969863.1",
"protein_id": "ENSP00000639922.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 925,
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{
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"verdict": "Pathogenic",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mandibulofacial dysostosis-microcephaly syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}