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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: 11-3038142-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3038142&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3038142,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001014437.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "NM_001014437.3",
"protein_id": "NP_001014437.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 831,
"cds_start": 709,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380525.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014437.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000380525.9",
"protein_id": "ENSP00000369897.4",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 831,
"cds_start": 709,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014437.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380525.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000397111.9",
"protein_id": "ENSP00000380300.5",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 748,
"cds_start": 460,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397111.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000278224.13",
"protein_id": "ENSP00000278224.9",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 726,
"cds_start": 460,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278224.13"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "NM_001194997.2",
"protein_id": "NP_001181926.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 809,
"cds_start": 709,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001194997.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000962722.1",
"protein_id": "ENSP00000632781.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 808,
"cds_start": 709,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962722.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000920477.1",
"protein_id": "ENSP00000590536.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 804,
"cds_start": 709,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920477.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000962721.1",
"protein_id": "ENSP00000632780.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 759,
"cds_start": 460,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962721.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001751.6",
"protein_id": "NP_001742.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 748,
"cds_start": 460,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001751.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "NM_001378136.1",
"protein_id": "NP_001365065.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 739,
"cds_start": 499,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378136.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000529772.5",
"protein_id": "ENSP00000432619.2",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 739,
"cds_start": 499,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529772.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "NM_001378137.1",
"protein_id": "NP_001365066.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 738,
"cds_start": 430,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378137.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Arg139Trp",
"transcript": "ENST00000962720.1",
"protein_id": "ENSP00000632779.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 733,
"cds_start": 415,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962720.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000868851.1",
"protein_id": "ENSP00000538910.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 728,
"cds_start": 460,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868851.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_139273.4",
"protein_id": "NP_644802.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 726,
"cds_start": 460,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139273.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000868850.1",
"protein_id": "ENSP00000538909.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 725,
"cds_start": 460,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868850.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000868849.1",
"protein_id": "ENSP00000538908.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 721,
"cds_start": 460,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868849.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000868852.1",
"protein_id": "ENSP00000538911.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 720,
"cds_start": 460,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868852.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "NM_001378138.1",
"protein_id": "NP_001365067.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 716,
"cds_start": 430,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378138.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "NM_001378139.1",
"protein_id": "NP_001365068.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 716,
"cds_start": 430,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378139.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000920476.1",
"protein_id": "ENSP00000590535.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 700,
"cds_start": 460,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920476.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "NM_001440304.1",
"protein_id": "NP_001427233.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 676,
"cds_start": 430,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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],
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"dbsnp": "rs140579023",
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"computational_score_selected": 0.5196239352226257,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.602,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001014437.3",
"gene_symbol": "CARS1",
"hgnc_id": 1493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000499962.1",
"gene_symbol": "CARS1-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}