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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: 11-119132546-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119132546&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119132546,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000350777.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_198971.3",
"protein_id": "NP_945322.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "ENST00000350777.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "ENST00000350777.7",
"protein_id": "ENSP00000318085.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": "NM_198971.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.796C>A",
"hgvs_p": "p.Leu266Ile",
"transcript": "NM_001351957.2",
"protein_id": "NP_001338886.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 540,
"cds_start": 796,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001351958.2",
"protein_id": "NP_001338887.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001351959.2",
"protein_id": "NP_001338888.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001351960.2",
"protein_id": "NP_001338889.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_015517.5",
"protein_id": "NP_056332.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 517,
"cds_start": 727,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001351961.2",
"protein_id": "NP_001338890.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 445,
"cds_start": 727,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001351962.2",
"protein_id": "NP_001338891.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 445,
"cds_start": 727,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "NM_001243259.2",
"protein_id": "NP_001230188.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 419,
"cds_start": 727,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile",
"transcript": "ENST00000527410.3",
"protein_id": "ENSP00000436815.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 419,
"cds_start": 727,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.109C>A",
"hgvs_p": "p.Leu37Ile",
"transcript": "NM_001351963.2",
"protein_id": "NP_001338892.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 311,
"cds_start": 109,
"cds_end": null,
"cds_length": 936,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.109C>A",
"hgvs_p": "p.Leu37Ile",
"transcript": "NM_001351964.2",
"protein_id": "NP_001338893.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 311,
"cds_start": 109,
"cds_end": null,
"cds_length": 936,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.Leu257Ile",
"transcript": "XM_011542744.3",
"protein_id": "XP_011541046.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 531,
"cds_start": 769,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.769C>A",
"hgvs_p": "p.Leu257Ile",
"transcript": "XM_017017499.2",
"protein_id": "XP_016872988.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 459,
"cds_start": 769,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "n.1108C>A",
"hgvs_p": null,
"transcript": "ENST00000527755.5",
"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": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "n.341C>A",
"hgvs_p": null,
"transcript": "ENST00000529808.1",
"protein_id": null,
"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": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "n.1411C>A",
"hgvs_p": null,
"transcript": "ENST00000531022.5",
"protein_id": null,
"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": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351965.2",
"protein_id": "NP_001338894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351966.2",
"protein_id": "NP_001338895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351969.2",
"protein_id": "NP_001338898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351971.2",
"protein_id": "NP_001338900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351972.2",
"protein_id": "NP_001338901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"hgvs_c": "c.-15C>A",
"hgvs_p": null,
"transcript": "NM_001351974.2",
"protein_id": "NP_001338903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HINFP",
"gene_hgnc_id": 17850,
"dbsnp": "rs374266980",
"frequency_reference_population": 0.000005575987,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000273621,
"gnomad_genomes_af": 0.0000328545,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4825747609138489,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.472,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000350777.7",
"gene_symbol": "HINFP",
"hgnc_id": 17850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Leu243Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}