← Back to variant description
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: 16-47162550-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47162550&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 47162550,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030790.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ser523Cys",
"transcript": "NM_030790.5",
"protein_id": "NP_110417.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 612,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320640.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030790.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ser523Cys",
"transcript": "ENST00000320640.11",
"protein_id": "ENSP00000319918.6",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 612,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030790.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320640.11"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1679C>G",
"hgvs_p": "p.Ser560Cys",
"transcript": "ENST00000868205.1",
"protein_id": "ENSP00000538264.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 649,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868205.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"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": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ser523Cys",
"transcript": "ENST00000868207.1",
"protein_id": "ENSP00000538266.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 627,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868207.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1589C>G",
"hgvs_p": "p.Ser530Cys",
"transcript": "ENST00000868210.1",
"protein_id": "ENSP00000538269.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 619,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868210.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1538C>G",
"hgvs_p": "p.Ser513Cys",
"transcript": "ENST00000868208.1",
"protein_id": "ENSP00000538267.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 602,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868208.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Ser500Cys",
"transcript": "ENST00000868209.1",
"protein_id": "ENSP00000538268.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 589,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868209.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1445C>G",
"hgvs_p": "p.Ser482Cys",
"transcript": "ENST00000868211.1",
"protein_id": "ENSP00000538270.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 571,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868211.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ser472Cys",
"transcript": "ENST00000943052.1",
"protein_id": "ENSP00000613111.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 561,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943052.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1229C>G",
"hgvs_p": "p.Ser410Cys",
"transcript": "NM_001305002.2",
"protein_id": "NP_001291931.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 464,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305002.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1229C>G",
"hgvs_p": "p.Ser410Cys",
"transcript": "ENST00000544001.6",
"protein_id": "ENSP00000441062.2",
"transcript_support_level": 2,
"aa_start": 410,
"aa_end": null,
"aa_length": 464,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544001.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.1040C>G",
"hgvs_p": "p.Ser347Cys",
"transcript": "ENST00000868206.1",
"protein_id": "ENSP00000538265.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 436,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868206.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.977C>G",
"hgvs_p": "p.Ser326Cys",
"transcript": "ENST00000868212.1",
"protein_id": "ENSP00000538271.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 415,
"cds_start": 977,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868212.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "c.266C>G",
"hgvs_p": "p.Ser89Cys",
"transcript": "ENST00000565262.1",
"protein_id": "ENSP00000457665.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 178,
"cds_start": 266,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565262.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "n.733C>G",
"hgvs_p": null,
"transcript": "ENST00000537184.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000537184.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "n.1031C>G",
"hgvs_p": null,
"transcript": "ENST00000542691.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000542691.5"
},
{
"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": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "n.519C>G",
"hgvs_p": null,
"transcript": "ENST00000567957.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000567957.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"hgvs_c": "n.1033C>G",
"hgvs_p": null,
"transcript": "ENST00000568047.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000568047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITFG1-AS1",
"gene_hgnc_id": 51383,
"hgvs_c": "n.265-1G>C",
"hgvs_p": null,
"transcript": "ENST00000564705.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000564705.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITFG1-AS1",
"gene_hgnc_id": 51383,
"hgvs_c": "n.397-1G>C",
"hgvs_p": null,
"transcript": "ENST00000565694.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000565694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITFG1-AS1",
"gene_hgnc_id": 51383,
"hgvs_c": "n.685-1G>C",
"hgvs_p": null,
"transcript": "NR_110903.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITFG1-AS1",
"gene_hgnc_id": 51383,
"hgvs_c": "n.520-1G>C",
"hgvs_p": null,
"transcript": "NR_110904.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110904.1"
}
],
"gene_symbol": "ITFG1",
"gene_hgnc_id": 30697,
"dbsnp": "rs747483079",
"frequency_reference_population": 0.000011043043,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.000011043,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12072759866714478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.162,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.696,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_030790.5",
"gene_symbol": "ITFG1",
"hgnc_id": 30697,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ser523Cys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000564705.6",
"gene_symbol": "ITFG1-AS1",
"hgnc_id": 51383,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.265-1G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}