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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: 4-39459148-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39459148&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 39459148,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006859.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_006859.4",
"protein_id": "NP_006850.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 31,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "ENST00000640888.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006859.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000640888.2",
"protein_id": "ENSP00000492260.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 372,
"cds_start": 31,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "NM_006859.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640888.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000424936.6",
"protein_id": "ENSP00000491086.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 142,
"cds_start": 31,
"cds_end": null,
"cds_length": 429,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424936.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000946185.1",
"protein_id": "ENSP00000616244.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 370,
"cds_start": 31,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946185.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000870880.1",
"protein_id": "ENSP00000540939.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 345,
"cds_start": 31,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870880.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_001278590.2",
"protein_id": "NP_001265519.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 329,
"cds_start": 31,
"cds_end": null,
"cds_length": 990,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278590.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000381846.2",
"protein_id": "ENSP00000371270.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 329,
"cds_start": 31,
"cds_end": null,
"cds_length": 990,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381846.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_194451.3",
"protein_id": "NP_919433.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 322,
"cds_start": 31,
"cds_end": null,
"cds_length": 969,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194451.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000340169.7",
"protein_id": "ENSP00000340676.2",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 322,
"cds_start": 31,
"cds_end": null,
"cds_length": 969,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340169.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000640349.1",
"protein_id": "ENSP00000491477.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 320,
"cds_start": 31,
"cds_end": null,
"cds_length": 965,
"cdna_start": 35,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640349.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_001363700.2",
"protein_id": "NP_001350629.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 269,
"cds_start": 31,
"cds_end": null,
"cds_length": 810,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363700.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000261434.8",
"protein_id": "ENSP00000261434.4",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 269,
"cds_start": 31,
"cds_end": null,
"cds_length": 810,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261434.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000513731.6",
"protein_id": "ENSP00000425580.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 242,
"cds_start": 31,
"cds_end": null,
"cds_length": 729,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513731.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000934755.1",
"protein_id": "ENSP00000604814.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 240,
"cds_start": 31,
"cds_end": null,
"cds_length": 723,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934755.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000638451.1",
"protein_id": "ENSP00000491681.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 226,
"cds_start": 31,
"cds_end": null,
"cds_length": 681,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638451.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000934754.1",
"protein_id": "ENSP00000604813.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 199,
"cds_start": 31,
"cds_end": null,
"cds_length": 600,
"cdna_start": 104,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934754.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_001278591.2",
"protein_id": "NP_001265520.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 142,
"cds_start": 31,
"cds_end": null,
"cds_length": 429,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278591.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "NM_001278592.2",
"protein_id": "NP_001265521.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 100,
"cds_start": 31,
"cds_end": null,
"cds_length": 303,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278592.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.31A>T",
"hgvs_p": "p.Thr11Ser",
"transcript": "ENST00000509519.5",
"protein_id": "ENSP00000492833.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 100,
"cds_start": 31,
"cds_end": null,
"cds_length": 303,
"cdna_start": 104,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.29A>T",
"hgvs_p": null,
"transcript": "ENST00000515061.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000515061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.31A>T",
"hgvs_p": null,
"transcript": "ENST00000638422.1",
"protein_id": "ENSP00000491001.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.31A>T",
"hgvs_p": null,
"transcript": "ENST00000638837.1",
"protein_id": "ENSP00000492038.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638837.1"
},
{
"aa_ref": null,
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],
"gene_symbol": "LIAS",
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"computational_score_selected": 0.017606735229492188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.332,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_006859.4",
"gene_symbol": "LIAS",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Thr11Ser"
},
{
"score": -9,
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"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000661.5",
"gene_symbol": "RPL9",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-259T>A",
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}
],
"clinvar_disease": "Inborn genetic diseases,Lipoic acid synthetase deficiency",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Lipoic acid synthetase deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}