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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: 17-215655-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=215655&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 215655,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006987.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "NM_006987.4",
"protein_id": "NP_008918.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000331302.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006987.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000331302.12",
"protein_id": "ENSP00000328977.7",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_006987.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331302.12"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.788C>A",
"hgvs_p": "p.Pro263Gln",
"transcript": "ENST00000323434.12",
"protein_id": "ENSP00000319210.8",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 286,
"cds_start": 788,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323434.12"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Pro298Gln",
"transcript": "ENST00000953554.1",
"protein_id": "ENSP00000623613.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 321,
"cds_start": 893,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953554.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "NM_001190411.2",
"protein_id": "NP_001177340.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190411.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000618002.4",
"protein_id": "ENSP00000479485.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618002.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907490.1",
"protein_id": "ENSP00000577549.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907490.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907491.1",
"protein_id": "ENSP00000577550.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907491.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907492.1",
"protein_id": "ENSP00000577551.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907492.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907493.1",
"protein_id": "ENSP00000577552.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907493.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907495.1",
"protein_id": "ENSP00000577554.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907495.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907496.1",
"protein_id": "ENSP00000577555.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907496.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907497.1",
"protein_id": "ENSP00000577556.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907497.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907498.1",
"protein_id": "ENSP00000577557.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907498.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907499.1",
"protein_id": "ENSP00000577558.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907499.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907501.1",
"protein_id": "ENSP00000577560.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907501.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000907503.1",
"protein_id": "ENSP00000577562.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907503.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000953552.1",
"protein_id": "ENSP00000623611.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953552.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000953555.1",
"protein_id": "ENSP00000623614.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953555.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000953557.1",
"protein_id": "ENSP00000623616.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953557.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3AL",
"gene_hgnc_id": 10296,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000953558.1",
"protein_id": "ENSP00000623617.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 315,
"cds_start": 875,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953558.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006987.4",
"gene_symbol": "RPH3AL",
"hgnc_id": 10296,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}