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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: 9-104102427-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=104102427&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 104102427,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006444.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "NM_006444.3",
"protein_id": "NP_006435.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 5928,
"mane_select": "ENST00000374793.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006444.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000374793.8",
"protein_id": "ENSP00000363925.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 5928,
"mane_select": "NM_006444.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374793.8"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000286398.11",
"protein_id": "ENSP00000286398.7",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286398.11"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "NM_001042550.2",
"protein_id": "NP_001036015.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042550.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "NM_001042551.2",
"protein_id": "NP_001036016.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042551.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "NM_001265602.2",
"protein_id": "NP_001252531.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 5953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265602.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000374787.7",
"protein_id": "ENSP00000363919.3",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374787.7"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000886042.1",
"protein_id": "ENSP00000556101.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886042.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000886043.1",
"protein_id": "ENSP00000556102.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886043.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000926170.1",
"protein_id": "ENSP00000596229.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 8969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926170.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000926171.1",
"protein_id": "ENSP00000596230.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926171.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000926172.1",
"protein_id": "ENSP00000596231.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926172.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000926173.1",
"protein_id": "ENSP00000596232.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926173.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000926174.1",
"protein_id": "ENSP00000596233.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
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"cds_length": 3594,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926174.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000956306.1",
"protein_id": "ENSP00000626365.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956306.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000956307.1",
"protein_id": "ENSP00000626366.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 6506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956307.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "ENST00000956308.1",
"protein_id": "ENSP00000626367.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956308.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "XM_006716933.4",
"protein_id": "XP_006716996.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
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"cdna_start": 1075,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716933.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "XM_011518148.3",
"protein_id": "XP_011516450.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518148.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "XM_011518149.4",
"protein_id": "XP_011516451.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
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"cdna_start": 6625,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518149.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "XM_017014206.2",
"protein_id": "XP_016869695.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014206.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC2",
"gene_hgnc_id": 14011,
"hgvs_c": "c.874A>C",
"hgvs_p": "p.Thr292Pro",
"transcript": "XM_017014208.2",
"protein_id": "XP_016869697.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1197,
"cds_start": 874,
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}