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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: 15-72045956-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72045956&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72045956,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000356056.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "NM_006901.4",
"protein_id": "NP_008832.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2548,
"cds_start": 608,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "ENST00000356056.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000356056.10",
"protein_id": "ENSP00000348349.5",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 2548,
"cds_start": 608,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "NM_006901.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "ENST00000564571.5",
"protein_id": "ENSP00000456192.1",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 2396,
"cds_start": 608,
"cds_end": null,
"cds_length": 7191,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 8111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "n.681A>G",
"hgvs_p": null,
"transcript": "ENST00000563542.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 8864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "n.1081A>G",
"hgvs_p": null,
"transcript": "ENST00000567560.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.-318-13368A>G",
"hgvs_p": null,
"transcript": "ENST00000566885.5",
"protein_id": "ENSP00000454446.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521613.4",
"protein_id": "XP_011519915.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2638,
"cds_start": 608,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521614.4",
"protein_id": "XP_011519916.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2638,
"cds_start": 608,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521615.4",
"protein_id": "XP_011519917.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2638,
"cds_start": 608,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 12551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521616.4",
"protein_id": "XP_011519918.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2638,
"cds_start": 608,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 12345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521617.4",
"protein_id": "XP_011519919.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2637,
"cds_start": 608,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432547.1",
"protein_id": "XP_047288503.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2637,
"cds_start": 608,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 12342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432548.1",
"protein_id": "XP_047288504.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2637,
"cds_start": 608,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 12790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521618.4",
"protein_id": "XP_011519920.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2620,
"cds_start": 608,
"cds_end": null,
"cds_length": 7863,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_006720539.4",
"protein_id": "XP_006720602.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521619.4",
"protein_id": "XP_011519921.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
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"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432549.1",
"protein_id": "XP_047288505.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 12288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432550.1",
"protein_id": "XP_047288506.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 12736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432551.1",
"protein_id": "XP_047288507.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
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"cdna_start": 747,
"cdna_end": null,
"cdna_length": 12288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432552.1",
"protein_id": "XP_047288508.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 12736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_047432553.1",
"protein_id": "XP_047288509.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2619,
"cds_start": 608,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 12510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
"hgvs_p": "p.Tyr203Cys",
"transcript": "XM_011521620.4",
"protein_id": "XP_011519922.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 2618,
"cds_start": 608,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.608A>G",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Myasthenic syndrome, congenital, 24, presynaptic|not provided|Flexion contracture",
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}
],
"message": null
}