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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: 1-220171944-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220171944&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220171944,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012414.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "NM_012414.4",
"protein_id": "NP_036546.2",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "ENST00000358951.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012414.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000358951.7",
"protein_id": "ENSP00000351832.2",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "NM_012414.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358951.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2597C>A",
"hgvs_p": "p.Ala866Glu",
"transcript": "ENST00000692972.1",
"protein_id": "ENSP00000510753.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1418,
"cds_start": 2597,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692972.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Ala845Glu",
"transcript": "ENST00000691661.1",
"protein_id": "ENSP00000510185.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1397,
"cds_start": 2534,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691661.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Ala845Glu",
"transcript": "ENST00000888373.1",
"protein_id": "ENSP00000558432.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1397,
"cds_start": 2534,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888373.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000888367.1",
"protein_id": "ENSP00000558426.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 7330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888367.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2516C>A",
"hgvs_p": "p.Ala839Glu",
"transcript": "ENST00000888371.1",
"protein_id": "ENSP00000558430.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1391,
"cds_start": 2516,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888371.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2498C>A",
"hgvs_p": "p.Ala833Glu",
"transcript": "ENST00000947881.1",
"protein_id": "ENSP00000617940.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1385,
"cds_start": 2498,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947881.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000692813.1",
"protein_id": "ENSP00000509080.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692813.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000888372.1",
"protein_id": "ENSP00000558431.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888372.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000690824.1",
"protein_id": "ENSP00000510709.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690824.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000888368.1",
"protein_id": "ENSP00000558427.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888368.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2423C>A",
"hgvs_p": "p.Ala808Glu",
"transcript": "ENST00000690315.1",
"protein_id": "ENSP00000509834.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2423,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690315.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2423C>A",
"hgvs_p": "p.Ala808Glu",
"transcript": "ENST00000947882.1",
"protein_id": "ENSP00000617941.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2423,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947882.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2420C>A",
"hgvs_p": "p.Ala807Glu",
"transcript": "ENST00000691862.1",
"protein_id": "ENSP00000509291.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2420,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691862.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2420C>A",
"hgvs_p": "p.Ala807Glu",
"transcript": "ENST00000888369.1",
"protein_id": "ENSP00000558428.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1359,
"cds_start": 2420,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888369.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000685664.1",
"protein_id": "ENSP00000509121.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1358,
"cds_start": 2522,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685664.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2522C>A",
"hgvs_p": "p.Ala841Glu",
"transcript": "ENST00000888370.1",
"protein_id": "ENSP00000558429.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 2615,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888370.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2258C>A",
"hgvs_p": "p.Ala753Glu",
"transcript": "ENST00000686381.1",
"protein_id": "ENSP00000509555.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2258,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686381.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2258C>A",
"hgvs_p": "p.Ala753Glu",
"transcript": "ENST00000687065.1",
"protein_id": "ENSP00000510408.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2258,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687065.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.2258C>A",
"hgvs_p": "p.Ala753Glu",
"transcript": "ENST00000687647.1",
"protein_id": "ENSP00000509205.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2258,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.2522C>A",
"hgvs_p": null,
"transcript": "ENST00000685286.1",
"protein_id": "ENSP00000509457.1",
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],
"gene_symbol": "RAB3GAP2",
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"dbsnp": "rs764713903",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8456094264984131,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.553,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9864,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.088,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012414.4",
"gene_symbol": "RAB3GAP2",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Ala841Glu"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}