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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: 19-51225221-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51225221&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51225221,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001772.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Ala14Gly",
"transcript": "NM_001772.4",
"protein_id": "NP_001763.3",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 364,
"cds_start": 41,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": "ENST00000262262.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Ala14Gly",
"transcript": "ENST00000262262.5",
"protein_id": "ENSP00000262262.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 364,
"cds_start": 41,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": "NM_001772.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Ala14Gly",
"transcript": "ENST00000391796.7",
"protein_id": "ENSP00000375673.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 310,
"cds_start": 41,
"cds_end": null,
"cds_length": 933,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+66C>G",
"hgvs_p": null,
"transcript": "ENST00000421133.6",
"protein_id": "ENSP00000410126.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+66C>G",
"hgvs_p": null,
"transcript": "ENST00000436584.6",
"protein_id": "ENSP00000403331.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Ala14Gly",
"transcript": "NM_001177608.2",
"protein_id": "NP_001171079.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 310,
"cds_start": 41,
"cds_end": null,
"cds_length": 933,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_011527531.3",
"protein_id": "XP_011525833.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 418,
"cds_start": 203,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_017027508.2",
"protein_id": "XP_016882997.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 418,
"cds_start": 203,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_047439728.1",
"protein_id": "XP_047295684.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 418,
"cds_start": 203,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_047439729.1",
"protein_id": "XP_047295685.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 418,
"cds_start": 203,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_017027509.2",
"protein_id": "XP_016882998.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 402,
"cds_start": 203,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_047439730.1",
"protein_id": "XP_047295686.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 372,
"cds_start": 203,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_047439731.1",
"protein_id": "XP_047295687.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 372,
"cds_start": 203,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.41C>G",
"hgvs_p": "p.Ala14Gly",
"transcript": "XM_011527532.3",
"protein_id": "XP_011525834.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 364,
"cds_start": 41,
"cds_end": null,
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"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.203C>G",
"hgvs_p": "p.Ala68Gly",
"transcript": "XM_047439732.1",
"protein_id": "XP_047295688.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 347,
"cds_start": 203,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "n.91C>G",
"hgvs_p": null,
"transcript": "ENST00000601785.5",
"protein_id": null,
"transcript_support_level": 5,
"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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"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "n.1221C>G",
"hgvs_p": null,
"transcript": "XR_007067046.1",
"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": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD33",
"gene_hgnc_id": 1659,
"hgvs_c": "c.37+66C>G",
"hgvs_p": null,
"transcript": "NM_001082618.2",
"protein_id": "NP_001076087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.244-30561G>C",
"hgvs_p": null,
"transcript": "ENST00000716537.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": 811,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.244-30561G>C",
"hgvs_p": null,
"transcript": "ENST00000716538.1",
"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,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.246-30561G>C",
"hgvs_p": null,
"transcript": "ENST00000716539.1",
"protein_id": null,
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"aa_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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.232-30561G>C",
"hgvs_p": null,
"transcript": "ENST00000819409.1",
"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": 907,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268595",
"gene_hgnc_id": null,
"hgvs_c": "n.254-30561G>C",
"hgvs_p": null,
"transcript": "ENST00000819410.1",
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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{
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{
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],
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}