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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: 19-58563286-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58563286&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58563286,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000215057.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Ile331Val",
"transcript": "NM_198055.2",
"protein_id": "NP_932172.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 734,
"cds_start": 991,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "ENST00000215057.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Ile331Val",
"transcript": "ENST00000215057.7",
"protein_id": "ENSP00000215057.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 734,
"cds_start": 991,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "NM_198055.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Ile331Val",
"transcript": "ENST00000599369.5",
"protein_id": "ENSP00000469493.1",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 734,
"cds_start": 991,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2587,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.773-26A>G",
"hgvs_p": null,
"transcript": "ENST00000594234.5",
"protein_id": "ENSP00000469378.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.185+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000600534.1",
"protein_id": null,
"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": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.991A>G",
"hgvs_p": "p.Ile331Val",
"transcript": "NM_003422.3",
"protein_id": "NP_003413.2",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 734,
"cds_start": 991,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Ile372Val",
"transcript": "XM_005259204.4",
"protein_id": "XP_005259261.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 775,
"cds_start": 1114,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Ile372Val",
"transcript": "XM_047439312.1",
"protein_id": "XP_047295268.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 775,
"cds_start": 1114,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1114A>G",
"hgvs_p": "p.Ile372Val",
"transcript": "XM_047439313.1",
"protein_id": "XP_047295269.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 775,
"cds_start": 1114,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ile361Val",
"transcript": "XM_011527264.4",
"protein_id": "XP_011525566.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 764,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "XM_017027206.2",
"protein_id": "XP_016882695.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 450,
"cds_start": 139,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1808,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "n.1328A>G",
"hgvs_p": null,
"transcript": "ENST00000600004.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2683,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.773-26A>G",
"hgvs_p": null,
"transcript": "NM_001267033.2",
"protein_id": "NP_001253962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.281+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000593642.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.285+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000600726.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.201+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000653470.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 802,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.283+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000716556.1",
"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,
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"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.214+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789831.1",
"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": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.274+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.211+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789851.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.278+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789874.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.217+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789875.1",
"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": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.265+3877T>C",
"hgvs_p": null,
"transcript": "ENST00000789876.1",
"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,
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
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"gene_symbol": "MZF1-AS1",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}