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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: 15-76311369-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76311369&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76311369,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000557943.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "NM_000126.4",
"protein_id": "NP_000117.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 333,
"cds_start": 20,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "ENST00000557943.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000557943.6",
"protein_id": "ENSP00000452762.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 333,
"cds_start": 20,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "NM_000126.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000560595.6",
"protein_id": "ENSP00000453345.2",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 406,
"cds_start": 20,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.-532C>T",
"hgvs_p": null,
"transcript": "ENST00000560726.5",
"protein_id": "ENSP00000453098.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": -4,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"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": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.-532C>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,
"cdna_end": null,
"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000692691.1",
"protein_id": "ENSP00000508808.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 374,
"cds_start": 20,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000687293.1",
"protein_id": "ENSP00000509928.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 358,
"cds_start": 20,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000689730.1",
"protein_id": "ENSP00000510006.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 327,
"cds_start": 20,
"cds_end": null,
"cds_length": 984,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000688389.1",
"protein_id": "ENSP00000510491.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 310,
"cds_start": 20,
"cds_end": null,
"cds_length": 933,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "NM_001127716.2",
"protein_id": "NP_001121188.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 284,
"cds_start": 20,
"cds_end": null,
"cds_length": 855,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000433983.6",
"protein_id": "ENSP00000399273.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 284,
"cds_start": 20,
"cds_end": null,
"cds_length": 855,
"cdna_start": 36,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000688908.1",
"protein_id": "ENSP00000510242.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 278,
"cds_start": 20,
"cds_end": null,
"cds_length": 837,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000685863.1",
"protein_id": "ENSP00000509361.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 261,
"cds_start": 20,
"cds_end": null,
"cds_length": 786,
"cdna_start": 101,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Pro7Leu",
"transcript": "ENST00000559602.5",
"protein_id": "ENSP00000452659.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 229,
"cds_start": 20,
"cds_end": null,
"cds_length": 690,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 792,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.44C>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,
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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": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>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": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>T",
"hgvs_p": null,
"transcript": "ENST00000560309.5",
"protein_id": "ENSP00000453753.1",
"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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"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.-532C>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,
"cdna_end": null,
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"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.34C>T",
"hgvs_p": null,
"transcript": "ENST00000561092.1",
"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": 461,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>T",
"hgvs_p": null,
"transcript": "ENST00000565910.6",
"protein_id": "ENSP00000458001.2",
"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": 1793,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.20C>T",
"hgvs_p": null,
"transcript": "ENST00000685118.1",
"protein_id": "ENSP00000509473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Multiple acyl-CoA dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}