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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: 17-219660-GAC-AAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=219660&ref=GAC&alt=AAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RPH3AL",
"hgnc_id": 10296,
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006987.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 998,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006987.4",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331302.12",
"protein_coding": true,
"protein_id": "NP_008918.1",
"strand": false,
"transcript": "NM_006987.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 998,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000331302.12",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006987.4",
"protein_coding": true,
"protein_id": "ENSP00000328977.7",
"strand": false,
"transcript": "ENST00000331302.12",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "V",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 861,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000323434.12",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.601_603delGTCinsATT",
"hgvs_p": "p.Val201Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319210.8",
"strand": false,
"transcript": "ENST00000323434.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "V",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 840,
"cds_end": null,
"cds_length": 966,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953554.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.706_708delGTCinsATT",
"hgvs_p": "p.Val236Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623613.1",
"strand": false,
"transcript": "ENST00000953554.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 822,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001190411.2",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177340.1",
"strand": false,
"transcript": "NM_001190411.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 857,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618002.4",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479485.1",
"strand": false,
"transcript": "ENST00000618002.4",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 881,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907490.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577549.1",
"strand": false,
"transcript": "ENST00000907490.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907491.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577550.1",
"strand": false,
"transcript": "ENST00000907491.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 915,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907492.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577551.1",
"strand": false,
"transcript": "ENST00000907492.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 948,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907493.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577552.1",
"strand": false,
"transcript": "ENST00000907493.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907495.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577554.1",
"strand": false,
"transcript": "ENST00000907495.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907496.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577555.1",
"strand": false,
"transcript": "ENST00000907496.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907497.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577556.1",
"strand": false,
"transcript": "ENST00000907497.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907498.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577557.1",
"strand": false,
"transcript": "ENST00000907498.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907499.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577558.1",
"strand": false,
"transcript": "ENST00000907499.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907501.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577560.1",
"strand": false,
"transcript": "ENST00000907501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 840,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907503.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577562.1",
"strand": false,
"transcript": "ENST00000907503.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 922,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953552.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623611.1",
"strand": false,
"transcript": "ENST00000953552.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953555.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623614.1",
"strand": false,
"transcript": "ENST00000953555.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 815,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953557.1",
"gene_hgnc_id": 10296,
"gene_symbol": "RPH3AL",
"hgvs_c": "c.688_690delGTCinsATT",
"hgvs_p": "p.Val230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623616.1",
"strand": false,
"transcript": "ENST00000953557.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 948,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953558.1",
"gene_hgnc_id": 10296,
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