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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: 16-67538760-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67538760&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67538760,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001193523.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "NM_024519.4",
"protein_id": "NP_078795.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000042381.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024519.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000042381.9",
"protein_id": "ENSP00000042381.4",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024519.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000042381.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "NM_001193523.2",
"protein_id": "NP_001180452.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1239,
"cds_start": 253,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193523.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000422602.8",
"protein_id": "ENSP00000400099.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 1239,
"cds_start": 253,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422602.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "NM_001410885.1",
"protein_id": "NP_001397814.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1238,
"cds_start": 253,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410885.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Ala85Thr",
"transcript": "ENST00000540839.7",
"protein_id": "ENSP00000443568.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 1238,
"cds_start": 253,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540839.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Ala79Thr",
"transcript": "NM_001193524.2",
"protein_id": "NP_001180453.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 1233,
"cds_start": 235,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193524.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Ala79Thr",
"transcript": "ENST00000428437.6",
"protein_id": "ENSP00000389456.2",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 1233,
"cds_start": 235,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428437.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Ala69Thr",
"transcript": "NM_001193522.2",
"protein_id": "NP_001180451.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1223,
"cds_start": 205,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193522.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Ala69Thr",
"transcript": "ENST00000379312.7",
"protein_id": "ENSP00000368614.3",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 1223,
"cds_start": 205,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379312.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Ala69Thr",
"transcript": "ENST00000860999.1",
"protein_id": "ENSP00000531058.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1223,
"cds_start": 205,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860999.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Ala69Thr",
"transcript": "ENST00000860995.1",
"protein_id": "ENSP00000531054.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1222,
"cds_start": 205,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860995.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860989.1",
"protein_id": "ENSP00000531048.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860989.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860990.1",
"protein_id": "ENSP00000531049.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860990.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860994.1",
"protein_id": "ENSP00000531053.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860994.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000965782.1",
"protein_id": "ENSP00000635841.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1219,
"cds_start": 193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965782.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860991.1",
"protein_id": "ENSP00000531050.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1218,
"cds_start": 193,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860991.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000861000.1",
"protein_id": "ENSP00000531059.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1218,
"cds_start": 193,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861000.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860992.1",
"protein_id": "ENSP00000531051.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1199,
"cds_start": 193,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860992.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000861001.1",
"protein_id": "ENSP00000531060.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1199,
"cds_start": 193,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861001.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000861002.1",
"protein_id": "ENSP00000531061.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1197,
"cds_start": 193,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861002.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIPOR1",
"gene_hgnc_id": 25836,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Ala65Thr",
"transcript": "ENST00000860993.1",
"protein_id": "ENSP00000531052.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1190,
"cds_start": 193,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001193523.2",
"gene_symbol": "RIPOR1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.253G>A",
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},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000567122.1",
"gene_symbol": "ENSG00000261396",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327C>T",
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},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000748474.1",
"gene_symbol": "CTCF-DT",
"hgnc_id": 55409,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.184-20375C>T",
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}
],
"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
}