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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: X-130147601-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130147601&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130147601,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000287295.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "NM_004208.4",
"protein_id": "NP_004199.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 613,
"cds_start": 497,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000287295.8",
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000287295.8",
"protein_id": "ENSP00000287295.3",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 613,
"cds_start": 497,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "NM_004208.4",
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000675092.1",
"protein_id": "ENSP00000501772.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 622,
"cds_start": 497,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2154,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000319908.8",
"protein_id": "ENSP00000315122.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 611,
"cds_start": 497,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2192,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000535724.6",
"protein_id": "ENSP00000446113.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 324,
"cds_start": 497,
"cds_end": null,
"cds_length": 975,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2248,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.491C>T",
"hgvs_p": null,
"transcript": "ENST00000416073.7",
"protein_id": "ENSP00000402535.3",
"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": 2061,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000675427.1",
"protein_id": "ENSP00000501880.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 612,
"cds_start": 497,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2123,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000676328.1",
"protein_id": "ENSP00000502068.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 612,
"cds_start": 497,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2086,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Pro164Leu",
"transcript": "ENST00000675857.1",
"protein_id": "ENSP00000502721.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 611,
"cds_start": 491,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2113,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Pro162Leu",
"transcript": "NM_145812.3",
"protein_id": "NP_665811.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 609,
"cds_start": 485,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2210,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Pro162Leu",
"transcript": "ENST00000676229.1",
"protein_id": "ENSP00000502184.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 609,
"cds_start": 485,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 4157,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Pro164Leu",
"transcript": "ENST00000676436.1",
"protein_id": "ENSP00000502669.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 609,
"cds_start": 491,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2048,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000674546.1",
"protein_id": "ENSP00000501950.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 589,
"cds_start": 497,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2233,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "ENST00000675240.1",
"protein_id": "ENSP00000501907.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 565,
"cds_start": 497,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2107,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "NM_001130847.4",
"protein_id": "NP_001124319.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 324,
"cds_start": 497,
"cds_end": null,
"cds_length": 975,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2425,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"transcript": "ENST00000527892.5",
"protein_id": "ENSP00000435955.1",
"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": 2105,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.289C>T",
"hgvs_p": null,
"transcript": "ENST00000533719.2",
"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": 1465,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*232C>T",
"hgvs_p": null,
"transcript": "ENST00000674555.1",
"protein_id": "ENSP00000502183.1",
"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": 2077,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.497C>T",
"hgvs_p": null,
"transcript": "ENST00000674722.1",
"protein_id": "ENSP00000501693.1",
"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": 1905,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.197C>T",
"hgvs_p": null,
"transcript": "ENST00000674957.1",
"protein_id": "ENSP00000501985.1",
"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": 2434,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*222C>T",
"hgvs_p": null,
"transcript": "ENST00000674997.1",
"protein_id": "ENSP00000502124.1",
"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": 1883,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.497C>T",
"hgvs_p": null,
"transcript": "ENST00000675037.1",
"protein_id": "ENSP00000501724.1",
"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": 1962,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.485C>T",
"hgvs_p": null,
"transcript": "ENST00000675050.1",
"protein_id": "ENSP00000502606.1",
"transcript_support_level": null,
"aa_start": null,
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"verdict": "Uncertain_significance",
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{
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{
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],
"clinvar_disease": "Charcot-Marie-Tooth Neuropathy X,Combined oxidative phosphorylation deficiency,Prostate cancer,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Prostate cancer|not provided|Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}