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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: 17-8207763-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8207763&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8207763,
"ref": "C",
"alt": "T",
"effect": "start_lost",
"transcript": "NM_001313952.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "NM_004217.4",
"protein_id": "NP_004208.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000585124.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004217.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000585124.6",
"protein_id": "ENSP00000463999.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004217.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585124.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000316199.10",
"protein_id": "ENSP00000313950.6",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 345,
"cds_start": 126,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316199.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000578549.5",
"protein_id": "ENSP00000462207.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 312,
"cds_start": 126,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578549.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001313952.2",
"protein_id": "NP_001300881.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 304,
"cds_start": 3,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313952.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001256834.3",
"protein_id": "NP_001243763.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 303,
"cds_start": 3,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256834.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001313951.1",
"protein_id": "NP_001300880.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 303,
"cds_start": 3,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313951.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000534871.5",
"protein_id": "ENSP00000443869.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 303,
"cds_start": 3,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534871.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000577833.5",
"protein_id": "ENSP00000463636.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 229,
"cds_start": 3,
"cds_end": null,
"cds_length": 692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577833.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000582368.5",
"protein_id": "ENSP00000464031.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 171,
"cds_start": 3,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582368.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000583915.1",
"protein_id": "ENSP00000462027.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 68,
"cds_start": 3,
"cds_end": null,
"cds_length": 209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583915.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_011524072.4",
"protein_id": "XP_011522374.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 303,
"cds_start": 3,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524072.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_047437050.1",
"protein_id": "XP_047293006.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 303,
"cds_start": 3,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437050.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_047437051.1",
"protein_id": "XP_047293007.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 271,
"cds_start": 3,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437051.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000932573.1",
"protein_id": "ENSP00000602632.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 347,
"cds_start": 126,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932573.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000932561.1",
"protein_id": "ENSP00000602620.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 346,
"cds_start": 126,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932561.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "NM_001284526.2",
"protein_id": "NP_001271455.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 345,
"cds_start": 126,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284526.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000932564.1",
"protein_id": "ENSP00000602623.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 345,
"cds_start": 126,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932564.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "NM_001313950.2",
"protein_id": "NP_001300879.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313950.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000881953.1",
"protein_id": "ENSP00000552012.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881953.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000932557.1",
"protein_id": "ENSP00000602616.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932557.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKB",
"gene_hgnc_id": 11390,
"hgvs_c": "c.126G>A",
"hgvs_p": "p.Met42Ile",
"transcript": "ENST00000932558.1",
"protein_id": "ENSP00000602617.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932558.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PVS1_Supporting",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001313952.2",
"gene_symbol": "AURKB",
"hgnc_id": 11390,
"effects": [
"start_lost"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?"
}
],
"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
}