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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: 1-46184396-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46184396&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46184396,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005727.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "NM_005727.4",
"protein_id": "NP_005718.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372003.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005727.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000372003.6",
"protein_id": "ENSP00000361072.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005727.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372003.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.305C>A",
"hgvs_p": "p.Thr102Lys",
"transcript": "ENST00000972190.1",
"protein_id": "ENSP00000642249.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 255,
"cds_start": 305,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972190.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893420.1",
"protein_id": "ENSP00000563479.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893420.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893421.1",
"protein_id": "ENSP00000563480.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893421.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893422.1",
"protein_id": "ENSP00000563481.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893422.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893423.1",
"protein_id": "ENSP00000563482.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893423.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893424.1",
"protein_id": "ENSP00000563483.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893424.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893430.1",
"protein_id": "ENSP00000563489.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893430.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893431.1",
"protein_id": "ENSP00000563490.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893431.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000972185.1",
"protein_id": "ENSP00000642244.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972185.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000972186.1",
"protein_id": "ENSP00000642245.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972186.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000972187.1",
"protein_id": "ENSP00000642246.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972187.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000972188.1",
"protein_id": "ENSP00000642247.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972188.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000972189.1",
"protein_id": "ENSP00000642248.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 241,
"cds_start": 263,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972189.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893426.1",
"protein_id": "ENSP00000563485.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 239,
"cds_start": 263,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893426.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "ENST00000893427.1",
"protein_id": "ENSP00000563486.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 189,
"cds_start": 263,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893427.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "XM_011540460.4",
"protein_id": "XP_011538762.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 258,
"cds_start": 263,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540460.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "XM_047420887.1",
"protein_id": "XP_047276843.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 258,
"cds_start": 263,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420887.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "XM_047420922.1",
"protein_id": "XP_047276878.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 258,
"cds_start": 263,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420922.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN1",
"gene_hgnc_id": 20657,
"hgvs_c": "c.263C>A",
"hgvs_p": "p.Thr88Lys",
"transcript": "XM_047420946.1",
"protein_id": "XP_047276902.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 258,
"cds_start": 263,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420946.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
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{
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"clinvar_review_status": "",
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}
],
"message": null
}