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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: 22-38115568-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38115568&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38115568,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003560.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "NM_003560.4",
"protein_id": "NP_003551.2",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332509.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003560.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000332509.8",
"protein_id": "ENSP00000333142.3",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003560.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332509.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000402064.5",
"protein_id": "ENSP00000386100.1",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402064.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000668949.1",
"protein_id": "ENSP00000499711.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 820,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668949.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "NM_001349864.2",
"protein_id": "NP_001336793.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349864.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000660610.1",
"protein_id": "ENSP00000499555.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660610.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000663895.1",
"protein_id": "ENSP00000499712.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000663895.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000667521.1",
"protein_id": "ENSP00000499665.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667521.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000885143.1",
"protein_id": "ENSP00000555202.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885143.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val",
"transcript": "ENST00000885146.1",
"protein_id": "ENSP00000555205.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 806,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885146.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Met619Val",
"transcript": "ENST00000664587.1",
"protein_id": "ENSP00000499394.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 760,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664587.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "NM_001004426.3",
"protein_id": "NP_001004426.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004426.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "NM_001199562.3",
"protein_id": "NP_001186491.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199562.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "NM_001349865.2",
"protein_id": "NP_001336794.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349865.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "NM_001349866.2",
"protein_id": "NP_001336795.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349866.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000335539.7",
"protein_id": "ENSP00000335149.3",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335539.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000885144.1",
"protein_id": "ENSP00000555203.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885144.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000885145.1",
"protein_id": "ENSP00000555204.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885145.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Met611Val",
"transcript": "ENST00000955628.1",
"protein_id": "ENSP00000625687.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 752,
"cds_start": 1831,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955628.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Met601Val",
"transcript": "ENST00000955632.1",
"protein_id": "ENSP00000625691.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 742,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955632.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "ENST00000885148.1",
"protein_id": "ENSP00000555207.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 734,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885148.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "ENST00000885149.1",
"protein_id": "ENSP00000555208.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 734,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673413.1"
}
],
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"dbsnp": "rs1163553928",
"frequency_reference_population": 0.000017353128,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000184759,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7971189022064209,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2528,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.873,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003560.4",
"gene_symbol": "PLA2G6",
"hgnc_id": 9039,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1993A>G",
"hgvs_p": "p.Met665Val"
}
],
"clinvar_disease": "Infantile neuroaxonal dystrophy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Infantile neuroaxonal dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}