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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: 8-6621668-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=6621668&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 6621668,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000344683.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "NM_024596.5",
"protein_id": "NP_078872.3",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 835,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "ENST00000344683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "ENST00000344683.10",
"protein_id": "ENSP00000342924.5",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 835,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "NM_024596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "ENST00000692836.1",
"protein_id": "ENSP00000509971.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 890,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "NM_001322042.2",
"protein_id": "NP_001308971.2",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 875,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "ENST00000689348.1",
"protein_id": "ENSP00000509554.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 875,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "NM_001410917.1",
"protein_id": "NP_001397846.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 871,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "ENST00000692938.1",
"protein_id": "ENSP00000509072.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 871,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "NM_001363979.1",
"protein_id": "NP_001350908.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 830,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "ENST00000690826.1",
"protein_id": "ENSP00000510536.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 830,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Tyr717Cys",
"transcript": "NM_001363980.2",
"protein_id": "NP_001350909.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Tyr717Cys",
"transcript": "ENST00000689633.1",
"protein_id": "ENSP00000509054.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.1274A>G",
"hgvs_p": "p.Tyr425Cys",
"transcript": "ENST00000690708.1",
"protein_id": "ENSP00000510400.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 450,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Tyr358Cys",
"transcript": "ENST00000689736.1",
"protein_id": "ENSP00000509722.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 364,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1096,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.518A>G",
"hgvs_p": "p.Tyr173Cys",
"transcript": "ENST00000687413.1",
"protein_id": "ENSP00000510583.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 179,
"cds_start": 518,
"cds_end": null,
"cds_length": 541,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Tyr159Cys",
"transcript": "ENST00000521129.2",
"protein_id": "ENSP00000509664.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 165,
"cds_start": 476,
"cds_end": null,
"cds_length": 499,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "XM_017013829.3",
"protein_id": "XP_016869318.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 877,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2429A>G",
"hgvs_p": "p.Tyr810Cys",
"transcript": "XM_047422233.1",
"protein_id": "XP_047278189.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 826,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Tyr717Cys",
"transcript": "XM_017013832.3",
"protein_id": "XP_016869321.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 778,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2228A>G",
"hgvs_p": "p.Tyr743Cys",
"transcript": "XM_047422234.1",
"protein_id": "XP_047278190.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 768,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "n.655A>G",
"hgvs_p": null,
"transcript": "ENST00000519221.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "n.1152A>G",
"hgvs_p": null,
"transcript": "ENST00000521175.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "n.1367A>G",
"hgvs_p": null,
"transcript": "ENST00000687324.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
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"inheritance_mode": "",
"hgvs_c": "n.221-33T>C",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Microcephaly 1, primary, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}