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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: 12-109945289-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109945289&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109945289,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_057169.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1702T>C",
"hgvs_p": "p.Ser568Pro",
"transcript": "NM_057169.5",
"protein_id": "NP_476510.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 759,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355312.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057169.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1702T>C",
"hgvs_p": "p.Ser568Pro",
"transcript": "ENST00000355312.8",
"protein_id": "ENSP00000347464.3",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 759,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_057169.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355312.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1497+1967T>C",
"hgvs_p": null,
"transcript": "ENST00000457474.6",
"protein_id": "ENSP00000391813.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457474.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1699T>C",
"hgvs_p": "p.Ser567Pro",
"transcript": "ENST00000876497.1",
"protein_id": "ENSP00000546556.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 758,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876497.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1699T>C",
"hgvs_p": "p.Ser567Pro",
"transcript": "ENST00000876510.1",
"protein_id": "ENSP00000546569.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 758,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876510.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1657T>C",
"hgvs_p": "p.Ser553Pro",
"transcript": "ENST00000876499.1",
"protein_id": "ENSP00000546558.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 744,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876499.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1654T>C",
"hgvs_p": "p.Ser552Pro",
"transcript": "ENST00000876494.1",
"protein_id": "ENSP00000546553.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 743,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876494.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1552T>C",
"hgvs_p": "p.Ser518Pro",
"transcript": "ENST00000876495.1",
"protein_id": "ENSP00000546554.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 709,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876495.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1549T>C",
"hgvs_p": "p.Ser517Pro",
"transcript": "NM_001330153.2",
"protein_id": "NP_001317082.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 708,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330153.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1549T>C",
"hgvs_p": "p.Ser517Pro",
"transcript": "ENST00000551209.5",
"protein_id": "ENSP00000448832.1",
"transcript_support_level": 5,
"aa_start": 517,
"aa_end": null,
"aa_length": 708,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551209.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1453T>C",
"hgvs_p": "p.Ser485Pro",
"transcript": "ENST00000876501.1",
"protein_id": "ENSP00000546560.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 676,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876501.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1450T>C",
"hgvs_p": "p.Ser484Pro",
"transcript": "ENST00000876506.1",
"protein_id": "ENSP00000546565.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 675,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876506.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1408T>C",
"hgvs_p": "p.Ser470Pro",
"transcript": "ENST00000876508.1",
"protein_id": "ENSP00000546567.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 661,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876508.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1303T>C",
"hgvs_p": "p.Ser435Pro",
"transcript": "ENST00000876496.1",
"protein_id": "ENSP00000546555.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 626,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876496.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1300T>C",
"hgvs_p": "p.Ser434Pro",
"transcript": "ENST00000876502.1",
"protein_id": "ENSP00000546561.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 625,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876502.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1699T>C",
"hgvs_p": "p.Ser567Pro",
"transcript": "XM_005253997.5",
"protein_id": "XP_005254054.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 758,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253997.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1657T>C",
"hgvs_p": "p.Ser553Pro",
"transcript": "XM_006719707.5",
"protein_id": "XP_006719770.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 744,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719707.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1654T>C",
"hgvs_p": "p.Ser552Pro",
"transcript": "XM_047429922.1",
"protein_id": "XP_047285878.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 743,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429922.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1552T>C",
"hgvs_p": "p.Ser518Pro",
"transcript": "XM_006719709.5",
"protein_id": "XP_006719772.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 709,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719709.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1516T>C",
"hgvs_p": "p.Ser506Pro",
"transcript": "XM_047429926.1",
"protein_id": "XP_047285882.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 697,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429926.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1471T>C",
"hgvs_p": "p.Ser491Pro",
"transcript": "XM_047429924.1",
"protein_id": "XP_047285880.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 682,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1641+1967T>C",
"hgvs_p": null,
"transcript": "NM_001135214.3",
"protein_id": "NP_001128686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": null,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.41+12205A>G",
"hgvs_p": null,
"transcript": "ENST00000550780.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550780.1"
}
],
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"dbsnp": "rs148427492",
"frequency_reference_population": 0.000020263116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000196213,
"gnomad_genomes_af": 0.0000262809,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46686869859695435,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.873,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_057169.5",
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1702T>C",
"hgvs_p": "p.Ser568Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000544838.5",
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*276-7829A>G",
"hgvs_p": null
}
],
"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
}