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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: 1-17607849-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=17607849&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 17607849,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018125.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_018125.4",
"protein_id": "NP_060595.3",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1279,
"cds_start": 481,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018125.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "ENST00000361221.8",
"protein_id": "ENSP00000355060.3",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 1279,
"cds_start": 481,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018125.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361221.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "ENST00000375415.5",
"protein_id": "ENSP00000364564.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 1240,
"cds_start": 481,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375415.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000970707.1",
"protein_id": "ENSP00000640766.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1280,
"cds_start": 484,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970707.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000933933.1",
"protein_id": "ENSP00000603992.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1275,
"cds_start": 484,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933933.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "ENST00000933927.1",
"protein_id": "ENSP00000603986.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1274,
"cds_start": 481,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933927.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Pro182Ser",
"transcript": "ENST00000970702.1",
"protein_id": "ENSP00000640761.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1256,
"cds_start": 544,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970702.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser",
"transcript": "ENST00000970706.1",
"protein_id": "ENSP00000640765.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1255,
"cds_start": 541,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970706.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000970701.1",
"protein_id": "ENSP00000640760.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1241,
"cds_start": 484,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970701.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000970711.1",
"protein_id": "ENSP00000640770.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1241,
"cds_start": 484,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970711.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_001011722.2",
"protein_id": "NP_001011722.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1240,
"cds_start": 481,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011722.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "NM_001438939.1",
"protein_id": "NP_001425868.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438939.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "NM_001438940.1",
"protein_id": "NP_001425869.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438940.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "NM_001438941.1",
"protein_id": "NP_001425870.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438941.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "NM_001438942.1",
"protein_id": "NP_001425871.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438942.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000875005.1",
"protein_id": "ENSP00000545064.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875005.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000933932.1",
"protein_id": "ENSP00000603991.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933932.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000970699.1",
"protein_id": "ENSP00000640758.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970699.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Pro162Ser",
"transcript": "ENST00000970710.1",
"protein_id": "ENSP00000640769.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1236,
"cds_start": 484,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970710.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_001319837.2",
"protein_id": "NP_001306766.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1235,
"cds_start": 481,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319837.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_001438943.1",
"protein_id": "NP_001425872.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1235,
"cds_start": 481,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438943.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_001438944.1",
"protein_id": "NP_001425873.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1235,
"cds_start": 481,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
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"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": "XR_946691.3"
}
],
"gene_symbol": "ARHGEF10L",
"gene_hgnc_id": 25540,
"dbsnp": "rs1424082607",
"frequency_reference_population": 0.0000012570473,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.95022e-7,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07721877098083496,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0663,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.573,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018125.4",
"gene_symbol": "ARHGEF10L",
"hgnc_id": 25540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser"
}
],
"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
}