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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: 15-76274431-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76274431&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76274431,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000557943.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Thr266Met",
"transcript": "NM_000126.4",
"protein_id": "NP_000117.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 333,
"cds_start": 797,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "ENST00000557943.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Thr266Met",
"transcript": "ENST00000557943.6",
"protein_id": "ENSP00000452762.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 333,
"cds_start": 797,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "NM_000126.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Thr339Met",
"transcript": "ENST00000560595.6",
"protein_id": "ENSP00000453345.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 406,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Thr307Met",
"transcript": "ENST00000692691.1",
"protein_id": "ENSP00000508808.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 374,
"cds_start": 920,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Thr291Met",
"transcript": "ENST00000687293.1",
"protein_id": "ENSP00000509928.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 358,
"cds_start": 872,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Thr260Met",
"transcript": "ENST00000689730.1",
"protein_id": "ENSP00000510006.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 327,
"cds_start": 779,
"cds_end": null,
"cds_length": 984,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.728C>T",
"hgvs_p": "p.Thr243Met",
"transcript": "ENST00000688389.1",
"protein_id": "ENSP00000510491.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 310,
"cds_start": 728,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Thr217Met",
"transcript": "NM_001127716.2",
"protein_id": "NP_001121188.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 284,
"cds_start": 650,
"cds_end": null,
"cds_length": 855,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Thr217Met",
"transcript": "ENST00000433983.6",
"protein_id": "ENSP00000399273.2",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 284,
"cds_start": 650,
"cds_end": null,
"cds_length": 855,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "ENST00000688908.1",
"protein_id": "ENSP00000510242.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 278,
"cds_start": 632,
"cds_end": null,
"cds_length": 837,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"transcript": "ENST00000685863.1",
"protein_id": "ENSP00000509361.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 261,
"cds_start": 581,
"cds_end": null,
"cds_length": 786,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Met",
"transcript": "ENST00000559602.5",
"protein_id": "ENSP00000452659.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 229,
"cds_start": 485,
"cds_end": null,
"cds_length": 690,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Thr6Met",
"transcript": "ENST00000560726.5",
"protein_id": "ENSP00000453098.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 73,
"cds_start": 17,
"cds_end": null,
"cds_length": 222,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 942,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.*520C>T",
"hgvs_p": null,
"transcript": "ENST00000267950.12",
"protein_id": "ENSP00000267950.8",
"transcript_support_level": 5,
"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": 1289,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.149C>T",
"hgvs_p": null,
"transcript": "ENST00000558803.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 447,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.821C>T",
"hgvs_p": null,
"transcript": "ENST00000559075.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1735,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.797C>T",
"hgvs_p": null,
"transcript": "ENST00000559386.2",
"protein_id": "ENSP00000452777.2",
"transcript_support_level": 5,
"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": 1134,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.638C>T",
"hgvs_p": null,
"transcript": "ENST00000559758.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 893,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.507C>T",
"hgvs_p": null,
"transcript": "ENST00000559973.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 804,
"mane_select": null,
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"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.*792C>T",
"hgvs_p": null,
"transcript": "ENST00000560044.6",
"protein_id": "ENSP00000452942.1",
"transcript_support_level": 5,
"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": 1329,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.705C>T",
"hgvs_p": null,
"transcript": "ENST00000560345.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 717,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.356C>T",
"hgvs_p": null,
"transcript": "ENST00000560816.5",
"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": 412,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.17C>T",
"hgvs_p": null,
"transcript": "ENST00000560899.5",
"protein_id": "ENSP00000453422.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10",
"phenotype_combined": "Glutaric acidemia IIa|not provided|Multiple acyl-CoA dehydrogenase deficiency|ETFA-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}