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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-130130097-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130130097&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130130097,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Pro548Leu",
"transcript": "NM_004208.4",
"protein_id": "NP_004199.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 613,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1828,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Pro548Leu",
"transcript": "ENST00000287295.8",
"protein_id": "ENSP00000287295.3",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 613,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1828,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "ENST00000675092.1",
"protein_id": "ENSP00000501772.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 622,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1760,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "ENST00000319908.8",
"protein_id": "ENSP00000315122.4",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 611,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1811,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Pro209Leu",
"transcript": "ENST00000460436.6",
"protein_id": "ENSP00000431222.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 274,
"cds_start": 626,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1925,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*307C>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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.*871C>T",
"hgvs_p": null,
"transcript": "ENST00000535724.6",
"protein_id": "ENSP00000446113.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*307C>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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1640C>T",
"hgvs_p": "p.Pro547Leu",
"transcript": "ENST00000675427.1",
"protein_id": "ENSP00000501880.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 612,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1729,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1640C>T",
"hgvs_p": "p.Pro547Leu",
"transcript": "ENST00000676328.1",
"protein_id": "ENSP00000502068.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 612,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1696,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "ENST00000675857.1",
"protein_id": "ENSP00000502721.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 611,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1719,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Pro544Leu",
"transcript": "NM_145812.3",
"protein_id": "NP_665811.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 609,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1816,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Pro544Leu",
"transcript": "ENST00000676229.1",
"protein_id": "ENSP00000502184.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 609,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1854,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Pro544Leu",
"transcript": "ENST00000676436.1",
"protein_id": "ENSP00000502669.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 609,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Arg551Trp",
"transcript": "ENST00000674546.1",
"protein_id": "ENSP00000501950.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 589,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"transcript": "ENST00000675240.1",
"protein_id": "ENSP00000501907.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 565,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1748,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu",
"transcript": "ENST00000346424.6",
"protein_id": "ENSP00000316320.3",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 326,
"cds_start": 782,
"cds_end": null,
"cds_length": 981,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1200,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Pro209Leu",
"transcript": "NM_001130846.4",
"protein_id": "NP_001124318.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 274,
"cds_start": 626,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 1925,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"transcript": "ENST00000674601.1",
"protein_id": "ENSP00000502764.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 228,
"cds_start": 488,
"cds_end": null,
"cds_length": 687,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 711,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*1571C>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,
"cdna_end": null,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*1378C>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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.1820C>T",
"hgvs_p": null,
"transcript": "ENST00000674582.1",
"protein_id": null,
"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": 2200,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.1129C>T",
"hgvs_p": null,
"transcript": "ENST00000674591.1",
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"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Charcot-Marie-Tooth Neuropathy X;Combined oxidative phosphorylation deficiency|not provided|Inborn genetic diseases",
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"custom_annotations": null
}
],
"message": null
}