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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: 15-76286421-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76286421&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76286421,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000557943.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "NM_000126.4",
"protein_id": "NP_000117.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 333,
"cds_start": 512,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "ENST00000557943.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "ENST00000557943.6",
"protein_id": "ENSP00000452762.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 333,
"cds_start": 512,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": "NM_000126.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "ENST00000560595.6",
"protein_id": "ENSP00000453345.2",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 406,
"cds_start": 512,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "ENST00000692691.1",
"protein_id": "ENSP00000508808.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 374,
"cds_start": 512,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "ENST00000687293.1",
"protein_id": "ENSP00000509928.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 358,
"cds_start": 512,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Thr165Ile",
"transcript": "ENST00000689730.1",
"protein_id": "ENSP00000510006.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 327,
"cds_start": 494,
"cds_end": null,
"cds_length": 984,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile",
"transcript": "ENST00000688389.1",
"protein_id": "ENSP00000510491.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 310,
"cds_start": 512,
"cds_end": null,
"cds_length": 933,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "NM_001127716.2",
"protein_id": "NP_001121188.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 284,
"cds_start": 365,
"cds_end": null,
"cds_length": 855,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "ENST00000433983.6",
"protein_id": "ENSP00000399273.2",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 284,
"cds_start": 365,
"cds_end": null,
"cds_length": 855,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Thr116Ile",
"transcript": "ENST00000688908.1",
"protein_id": "ENSP00000510242.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 278,
"cds_start": 347,
"cds_end": null,
"cds_length": 837,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "ENST00000685863.1",
"protein_id": "ENSP00000509361.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 261,
"cds_start": 365,
"cds_end": null,
"cds_length": 786,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Thr67Ile",
"transcript": "ENST00000559602.5",
"protein_id": "ENSP00000452659.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 229,
"cds_start": 200,
"cds_end": null,
"cds_length": 690,
"cdna_start": 226,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.*235C>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": 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.536C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.512C>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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.353C>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,
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"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.222C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 804,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.*507C>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": 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.*425C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.324C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.71C>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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.-269C>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": 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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFA",
"gene_hgnc_id": 3481,
"hgvs_c": "n.512C>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,
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],
"verdict": "Benign",
"transcript": "ENST00000557943.6",
"gene_symbol": "ETFA",
"hgnc_id": 3481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Thr171Ile"
}
],
"clinvar_disease": "Multiple acyl-CoA dehydrogenase deficiency,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:6",
"phenotype_combined": "not specified|Multiple acyl-CoA dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}