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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: 11-61300817-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61300817&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61300817,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001923.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "NM_001923.5",
"protein_id": "NP_001914.3",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301764.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001923.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000301764.12",
"protein_id": "ENSP00000301764.7",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001923.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301764.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*56A>C",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540166.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.*56A>C",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540166.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3463A>C",
"hgvs_p": "p.Asn1155His",
"transcript": "ENST00000954153.1",
"protein_id": "ENSP00000624212.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3463,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954153.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3457A>C",
"hgvs_p": "p.Asn1153His",
"transcript": "ENST00000954157.1",
"protein_id": "ENSP00000624216.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3457,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954157.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3352A>C",
"hgvs_p": "p.Asn1118His",
"transcript": "ENST00000867658.1",
"protein_id": "ENSP00000537717.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867658.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3352A>C",
"hgvs_p": "p.Asn1118His",
"transcript": "ENST00000867660.1",
"protein_id": "ENSP00000537719.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867660.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3337A>C",
"hgvs_p": "p.Asn1113His",
"transcript": "ENST00000920440.1",
"protein_id": "ENSP00000590499.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920440.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000680367.1",
"protein_id": "ENSP00000506223.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680367.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000681803.1",
"protein_id": "ENSP00000506685.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681803.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000920436.1",
"protein_id": "ENSP00000590495.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920436.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000954149.1",
"protein_id": "ENSP00000624208.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954149.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His",
"transcript": "ENST00000954150.1",
"protein_id": "ENSP00000624209.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954150.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3325A>C",
"hgvs_p": "p.Asn1109His",
"transcript": "ENST00000920438.1",
"protein_id": "ENSP00000590497.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1138,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920438.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3322A>C",
"hgvs_p": "p.Asn1108His",
"transcript": "ENST00000954152.1",
"protein_id": "ENSP00000624211.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3322,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954152.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3313A>C",
"hgvs_p": "p.Asn1105His",
"transcript": "ENST00000920447.1",
"protein_id": "ENSP00000590506.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920447.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3283A>C",
"hgvs_p": "p.Asn1095His",
"transcript": "ENST00000920444.1",
"protein_id": "ENSP00000590503.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3283,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920444.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3247A>C",
"hgvs_p": "p.Asn1083His",
"transcript": "ENST00000920439.1",
"protein_id": "ENSP00000590498.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1112,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920439.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3235A>C",
"hgvs_p": "p.Asn1079His",
"transcript": "ENST00000954155.1",
"protein_id": "ENSP00000624214.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954155.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3232A>C",
"hgvs_p": "p.Asn1078His",
"transcript": "ENST00000681935.1",
"protein_id": "ENSP00000505717.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681935.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.3223A>C",
"hgvs_p": "p.Asn1075His",
"transcript": "ENST00000867659.1",
"protein_id": "ENSP00000537718.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3223,
"cds_end": null,
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"feature": "ENST00000680959.1"
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{
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{
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"consequences": [
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],
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{
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{
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],
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"gene_symbol": "DDB1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681188.1"
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],
"gene_symbol": "DDB1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23329052329063416,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.1193,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.689,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001923.5",
"gene_symbol": "DDB1",
"hgnc_id": 2717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3331A>C",
"hgvs_p": "p.Asn1111His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}