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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: 10-20840808-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20840808&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 20840808,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000377122.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1269A>T",
"hgvs_p": "p.Lys423Asn",
"transcript": "NM_006393.3",
"protein_id": "NP_006384.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1014,
"cds_start": 1269,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "ENST00000377122.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1269A>T",
"hgvs_p": "p.Lys423Asn",
"transcript": "ENST00000377122.9",
"protein_id": "ENSP00000366326.4",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 1014,
"cds_start": 1269,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": "NM_006393.3",
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.358-27868A>T",
"hgvs_p": null,
"transcript": "ENST00000417816.2",
"protein_id": "ENSP00000393896.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1221A>T",
"hgvs_p": "p.Lys407Asn",
"transcript": "XM_011519291.3",
"protein_id": "XP_011517593.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 998,
"cds_start": 1221,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1221A>T",
"hgvs_p": "p.Lys407Asn",
"transcript": "XM_047424443.1",
"protein_id": "XP_047280399.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 998,
"cds_start": 1221,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Lys389Asn",
"transcript": "XM_005252342.6",
"protein_id": "XP_005252399.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 980,
"cds_start": 1167,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.1269A>T",
"hgvs_p": "p.Lys423Asn",
"transcript": "XM_005252343.6",
"protein_id": "XP_005252400.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 933,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 8682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.280A>T",
"hgvs_p": null,
"transcript": "ENST00000482754.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.3631A>T",
"hgvs_p": null,
"transcript": "ENST00000675747.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.1375A>T",
"hgvs_p": null,
"transcript": "XR_001746995.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.1375A>T",
"hgvs_p": null,
"transcript": "XR_242691.6",
"protein_id": null,
"transcript_support_level": null,
"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": 3069,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.358-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377322.1",
"protein_id": "NP_001364251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6938,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.358-27868A>T",
"hgvs_p": null,
"transcript": "NM_213569.2",
"protein_id": "NP_998734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6941,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.310-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377323.1",
"protein_id": "NP_001364252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
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"cds_length": 765,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.301-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377324.1",
"protein_id": "NP_001364253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6946,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.292-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377325.1",
"protein_id": "NP_001364254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.250-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377326.1",
"protein_id": "NP_001364255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
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"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.250-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377327.1",
"protein_id": "NP_001364256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.250-27868A>T",
"hgvs_p": null,
"transcript": "NM_001377328.1",
"protein_id": "NP_001364257.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.358-27868A>T",
"hgvs_p": null,
"transcript": "NM_001173484.2",
"protein_id": "NP_001166955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
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"cdna_length": 6843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.566-27868A>T",
"hgvs_p": null,
"transcript": "ENST00000675114.1",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.381-27868A>T",
"hgvs_p": null,
"transcript": "ENST00000675700.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6533,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "n.637-27868A>T",
"hgvs_p": null,
"transcript": "ENST00000675702.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6789,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"hgvs_c": "c.358-27868A>T",
"hgvs_p": null,
"transcript": "XM_047424444.1",
"protein_id": "XP_047280400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEBL",
"gene_hgnc_id": 16932,
"dbsnp": "rs138932199",
"frequency_reference_population": 0.000003104888,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000274312,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3193973898887634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.3885,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.203,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377122.9",
"gene_symbol": "NEBL",
"hgnc_id": 16932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1269A>T",
"hgvs_p": "p.Lys423Asn"
}
],
"clinvar_disease": "Primary dilated cardiomyopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Primary dilated cardiomyopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}