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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: 4-128098289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128098289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 128098289,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018078.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "NM_018078.4",
"protein_id": "NP_060548.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 914,
"cds_start": 772,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326639.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018078.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000326639.11",
"protein_id": "ENSP00000321997.6",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 914,
"cds_start": 772,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018078.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326639.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000512292.5",
"protein_id": "ENSP00000422850.1",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 518,
"cds_start": 772,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512292.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000432347.6",
"protein_id": "ENSP00000390395.2",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 358,
"cds_start": 772,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432347.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000394288.7",
"protein_id": "ENSP00000377829.3",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 335,
"cds_start": 772,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394288.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899921.1",
"protein_id": "ENSP00000569980.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 918,
"cds_start": 772,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899921.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000649983.2",
"protein_id": "ENSP00000497192.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 914,
"cds_start": 772,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649983.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "NM_001410786.1",
"protein_id": "NP_001397715.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 902,
"cds_start": 772,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410786.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000704292.1",
"protein_id": "ENSP00000515817.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 902,
"cds_start": 772,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704292.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899913.1",
"protein_id": "ENSP00000569972.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 902,
"cds_start": 772,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899913.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899919.1",
"protein_id": "ENSP00000569978.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 902,
"cds_start": 772,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899919.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899920.1",
"protein_id": "ENSP00000569979.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 902,
"cds_start": 772,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899920.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000917669.1",
"protein_id": "ENSP00000587728.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 900,
"cds_start": 772,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917669.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899915.1",
"protein_id": "ENSP00000569974.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 888,
"cds_start": 772,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899915.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899916.1",
"protein_id": "ENSP00000569975.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 887,
"cds_start": 772,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899916.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899914.1",
"protein_id": "ENSP00000569973.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 875,
"cds_start": 772,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899914.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000952429.1",
"protein_id": "ENSP00000622488.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 875,
"cds_start": 772,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952429.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "ENST00000899917.1",
"protein_id": "ENSP00000569976.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 871,
"cds_start": 631,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899917.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "ENST00000917667.1",
"protein_id": "ENSP00000587726.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 840,
"cds_start": 631,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917667.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000899918.1",
"protein_id": "ENSP00000569977.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 790,
"cds_start": 772,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899918.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000917668.1",
"protein_id": "ENSP00000587727.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 790,
"cds_start": 772,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917668.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP1B",
"gene_hgnc_id": 24704,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000952430.1",
"protein_id": "ENSP00000622489.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 788,
"cds_start": 772,
"cds_end": null,
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],
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"gnomad_exomes_af": 6.84236e-7,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
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"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "NM_018078.4",
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"effects": [
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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
}