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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: 19-49909248-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49909248&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49909248,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000352066.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_016553.5",
"protein_id": "NP_057637.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": "ENST00000352066.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000352066.8",
"protein_id": "ENSP00000305503.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": "NM_016553.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000422090.2",
"protein_id": "ENSP00000407331.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000597029.6",
"protein_id": "ENSP00000473192.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000597723.5",
"protein_id": "ENSP00000469283.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 446,
"cds_start": 560,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4927C>T",
"hgvs_p": null,
"transcript": "ENST00000341114.7",
"protein_id": "ENSP00000342557.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-285-4927C>T",
"hgvs_p": null,
"transcript": "ENST00000595948.5",
"protein_id": "ENSP00000472474.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "n.-227-4927C>T",
"hgvs_p": null,
"transcript": "ENST00000601717.5",
"protein_id": "ENSP00000469467.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_001193357.2",
"protein_id": "NP_001180286.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_012346.5",
"protein_id": "NP_036478.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_153718.4",
"protein_id": "NP_714940.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "NM_153719.4",
"protein_id": "NP_714941.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000596217.1",
"protein_id": "ENSP00000471191.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000596437.6",
"protein_id": "ENSP00000468842.2",
"transcript_support_level": 4,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
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"cdna_start": 1227,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000598301.2",
"protein_id": "ENSP00000515009.1",
"transcript_support_level": 4,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000599560.6",
"protein_id": "ENSP00000515013.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
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"cdna_start": 1174,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000599788.2",
"protein_id": "ENSP00000468884.2",
"transcript_support_level": 4,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000600583.6",
"protein_id": "ENSP00000515011.1",
"transcript_support_level": 4,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000600935.2",
"protein_id": "ENSP00000468839.2",
"transcript_support_level": 4,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
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"cdna_start": 1105,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000700473.1",
"protein_id": "ENSP00000515006.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
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"cdna_start": 806,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000700474.1",
"protein_id": "ENSP00000515007.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
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"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000700475.1",
"protein_id": "ENSP00000515008.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 522,
"cds_start": 560,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Met",
"transcript": "ENST00000700476.1",
"protein_id": "ENSP00000515010.1",
"transcript_support_level": null,
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],
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{
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"BS1",
"BS2"
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"verdict": "Benign",
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"inheritance_mode": "AR,AD,Unknown",
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{
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"BS1",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}