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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: 2-152657909-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=152657909&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 152657909,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001395488.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2806A>G",
"hgvs_p": "p.Lys936Glu",
"transcript": "NM_001365597.4",
"protein_id": "NP_001352526.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 972,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": "ENST00000545856.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365597.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2806A>G",
"hgvs_p": "p.Lys936Glu",
"transcript": "ENST00000545856.8",
"protein_id": "ENSP00000444656.4",
"transcript_support_level": 1,
"aa_start": 936,
"aa_end": null,
"aa_length": 972,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": "NM_001365597.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545856.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2872A>G",
"hgvs_p": "p.Lys958Glu",
"transcript": "NM_001395488.1",
"protein_id": "NP_001382417.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 994,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 7947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395488.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2872A>G",
"hgvs_p": "p.Lys958Glu",
"transcript": "ENST00000410080.8",
"protein_id": "ENSP00000386458.4",
"transcript_support_level": 5,
"aa_start": 958,
"aa_end": null,
"aa_length": 994,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 3222,
"cdna_end": null,
"cdna_length": 8048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410080.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Lys940Glu",
"transcript": "NM_001365596.4",
"protein_id": "NP_001352525.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 976,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 7527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365596.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Lys940Glu",
"transcript": "ENST00000968845.1",
"protein_id": "ENSP00000638904.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 976,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968845.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2764A>G",
"hgvs_p": "p.Lys922Glu",
"transcript": "NM_001365598.4",
"protein_id": "NP_001352527.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 958,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 7473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365598.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2761A>G",
"hgvs_p": "p.Lys921Glu",
"transcript": "ENST00000696381.1",
"protein_id": "ENSP00000512591.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 957,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696381.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2758A>G",
"hgvs_p": "p.Lys920Glu",
"transcript": "ENST00000924543.1",
"protein_id": "ENSP00000594602.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 956,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924543.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2752A>G",
"hgvs_p": "p.Lys918Glu",
"transcript": "NM_001365599.4",
"protein_id": "NP_001352528.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 954,
"cds_start": 2752,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365599.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Lys898Glu",
"transcript": "NM_001365600.4",
"protein_id": "NP_001352529.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 934,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365600.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Lys898Glu",
"transcript": "NM_001395472.1",
"protein_id": "NP_001382401.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 934,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395472.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Lys898Glu",
"transcript": "ENST00000698772.1",
"protein_id": "ENSP00000513920.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 934,
"cds_start": 2692,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698772.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2683A>G",
"hgvs_p": "p.Lys895Glu",
"transcript": "ENST00000698773.1",
"protein_id": "ENSP00000513921.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 931,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2683,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698773.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2680A>G",
"hgvs_p": "p.Lys894Glu",
"transcript": "NM_001395473.1",
"protein_id": "NP_001382402.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 930,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2893,
"cdna_end": null,
"cdna_length": 7580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395473.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2680A>G",
"hgvs_p": "p.Lys894Glu",
"transcript": "NM_017892.5",
"protein_id": "NP_060362.3",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 930,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 3055,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017892.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2647A>G",
"hgvs_p": "p.Lys883Glu",
"transcript": "NM_001395475.1",
"protein_id": "NP_001382404.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 919,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395475.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2638A>G",
"hgvs_p": "p.Lys880Glu",
"transcript": "NM_001365601.4",
"protein_id": "NP_001352530.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 916,
"cds_start": 2638,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365601.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2638A>G",
"hgvs_p": "p.Lys880Glu",
"transcript": "NM_001395476.1",
"protein_id": "NP_001382405.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 916,
"cds_start": 2638,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395476.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2635A>G",
"hgvs_p": "p.Lys879Glu",
"transcript": "NM_001395477.1",
"protein_id": "NP_001382406.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 915,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 7386,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395477.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2635A>G",
"hgvs_p": "p.Lys879Glu",
"transcript": "NM_001395478.1",
"protein_id": "NP_001382407.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 915,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 7548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395478.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF40A",
"gene_hgnc_id": 16463,
"hgvs_c": "c.2635A>G",
"hgvs_p": "p.Lys879Glu",
"transcript": "ENST00000696382.1",
"protein_id": "ENSP00000512592.1",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001395488.1",
"gene_symbol": "PRPF40A",
"hgnc_id": 16463,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2872A>G",
"hgvs_p": "p.Lys958Glu"
}
],
"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
}