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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: 8-18535837-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18535837&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18535837,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001412866.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asp1017Gly",
"transcript": "NM_015310.4",
"protein_id": "NP_056125.3",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327040.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015310.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asp1017Gly",
"transcript": "ENST00000327040.13",
"protein_id": "ENSP00000324127.8",
"transcript_support_level": 1,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015310.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327040.13"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2855A>G",
"hgvs_p": "p.Asp952Gly",
"transcript": "ENST00000523619.5",
"protein_id": "ENSP00000430640.1",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 982,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523619.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asp483Gly",
"transcript": "ENST00000286485.12",
"protein_id": "ENSP00000286485.8",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 513,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286485.12"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asp346Gly",
"transcript": "ENST00000428502.6",
"protein_id": "ENSP00000393228.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 376,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428502.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3434A>G",
"hgvs_p": "p.Asp1145Gly",
"transcript": "NM_001412866.1",
"protein_id": "NP_001399795.1",
"transcript_support_level": null,
"aa_start": 1145,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3434,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412866.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3353A>G",
"hgvs_p": "p.Asp1118Gly",
"transcript": "NM_001412865.1",
"protein_id": "NP_001399794.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3353,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412865.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3089A>G",
"hgvs_p": "p.Asp1030Gly",
"transcript": "NM_001412875.1",
"protein_id": "NP_001399804.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412875.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3047A>G",
"hgvs_p": "p.Asp1016Gly",
"transcript": "NM_001412876.1",
"protein_id": "NP_001399805.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1046,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412876.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2960A>G",
"hgvs_p": "p.Asp987Gly",
"transcript": "NM_001412873.1",
"protein_id": "NP_001399802.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2960,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2951A>G",
"hgvs_p": "p.Asp984Gly",
"transcript": "NM_001362819.2",
"protein_id": "NP_001349748.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362819.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2948A>G",
"hgvs_p": "p.Asp983Gly",
"transcript": "NM_001412871.1",
"protein_id": "NP_001399800.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412871.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2858A>G",
"hgvs_p": "p.Asp953Gly",
"transcript": "NM_001412872.1",
"protein_id": "NP_001399801.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 983,
"cds_start": 2858,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412872.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2855A>G",
"hgvs_p": "p.Asp952Gly",
"transcript": "NM_001412874.1",
"protein_id": "NP_001399803.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 982,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412874.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2855A>G",
"hgvs_p": "p.Asp952Gly",
"transcript": "NM_001412882.1",
"protein_id": "NP_001399811.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 982,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2855A>G",
"hgvs_p": "p.Asp952Gly",
"transcript": "NM_001412883.1",
"protein_id": "NP_001399812.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 982,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412883.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asp483Gly",
"transcript": "NM_206909.3",
"protein_id": "NP_996792.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 513,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206909.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1442A>G",
"hgvs_p": "p.Asp481Gly",
"transcript": "NM_001412891.1",
"protein_id": "NP_001399820.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 511,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412891.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Asp458Gly",
"transcript": "NM_001412885.1",
"protein_id": "NP_001399814.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 488,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412885.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Asp458Gly",
"transcript": "NM_001412886.1",
"protein_id": "NP_001399815.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 488,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412886.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Asp458Gly",
"transcript": "NM_001412888.1",
"protein_id": "NP_001399817.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 488,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412888.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1373A>G",
"hgvs_p": "p.Asp458Gly",
"transcript": "NM_001412889.1",
"protein_id": "NP_001399818.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 488,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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"gnomad_genomes_ac": 1,
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"computational_score_selected": 0.10616552829742432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001412866.1",
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"effects": [
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],
"inheritance_mode": "AD",
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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
}