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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: 9-104100118-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=104100118&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 104100118,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006444.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_006444.3",
"protein_id": "NP_006435.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374793.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006444.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000374793.8",
"protein_id": "ENSP00000363925.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006444.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374793.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000286398.11",
"protein_id": "ENSP00000286398.7",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000286398.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_001042550.2",
"protein_id": "NP_001036015.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "NM_001042550.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_001042551.2",
"protein_id": "NP_001036016.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "NM_001042551.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_001265602.2",
"protein_id": "NP_001252531.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "NM_001265602.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000374787.7",
"protein_id": "ENSP00000363919.3",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000374787.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000886042.1",
"protein_id": "ENSP00000556101.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000886042.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000886043.1",
"protein_id": "ENSP00000556102.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000886043.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000926170.1",
"protein_id": "ENSP00000596229.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000926170.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000926171.1",
"protein_id": "ENSP00000596230.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000926171.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000926172.1",
"protein_id": "ENSP00000596231.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000926172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000926173.1",
"protein_id": "ENSP00000596232.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000926173.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000926174.1",
"protein_id": "ENSP00000596233.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000926174.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000956306.1",
"protein_id": "ENSP00000626365.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000956306.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000956307.1",
"protein_id": "ENSP00000626366.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000956307.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000956308.1",
"protein_id": "ENSP00000626367.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "ENST00000956308.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ala24Val",
"transcript": "ENST00000440179.5",
"protein_id": "ENSP00000414999.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 144,
"cds_start": 71,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440179.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "XM_006716933.4",
"protein_id": "XP_006716996.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "XM_006716933.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "XM_011518148.3",
"protein_id": "XP_011516450.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "XM_011518148.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "XM_011518149.4",
"protein_id": "XP_011516451.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "XM_011518149.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "XM_017014206.2",
"protein_id": "XP_016869695.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1197,
"cds_start": 506,
"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": "XM_017014206.2"
},
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"phenotype_combined": "not specified",
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}
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"message": null
}