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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: 10-31461220-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=31461220&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 31461220,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000424869.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "NM_001174096.2",
"protein_id": "NP_001167567.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1125,
"cds_start": 242,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "ENST00000424869.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "ENST00000424869.6",
"protein_id": "ENSP00000415961.2",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 1125,
"cds_start": 242,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "NM_001174096.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "ENST00000320985.14",
"protein_id": "ENSP00000319248.9",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 1124,
"cds_start": 242,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "ENST00000558440.5",
"protein_id": "ENSP00000453970.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 287,
"cds_start": 242,
"cds_end": null,
"cds_length": 864,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 886,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.*379A>G",
"hgvs_p": null,
"transcript": "ENST00000437844.6",
"protein_id": "ENSP00000405958.3",
"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": 6246,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.952A>G",
"hgvs_p": null,
"transcript": "ENST00000488625.6",
"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": 6026,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.386A>G",
"hgvs_p": null,
"transcript": "ENST00000557827.5",
"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": 877,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.881A>G",
"hgvs_p": null,
"transcript": "ENST00000559496.5",
"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": 1381,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.311A>G",
"hgvs_p": null,
"transcript": "ENST00000559858.5",
"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": 2745,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.834A>G",
"hgvs_p": null,
"transcript": "ENST00000560196.5",
"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": 1014,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.420A>G",
"hgvs_p": null,
"transcript": "ENST00000561061.5",
"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": 970,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.859A>G",
"hgvs_p": null,
"transcript": "ENST00000561304.5",
"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": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "n.*379A>G",
"hgvs_p": null,
"transcript": "ENST00000437844.6",
"protein_id": "ENSP00000405958.3",
"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": 6246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "NM_030751.6",
"protein_id": "NP_110378.3",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1124,
"cds_start": 242,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "NM_001323676.2",
"protein_id": "NP_001310605.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1111,
"cds_start": 200,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "NM_001323677.2",
"protein_id": "NP_001310606.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1110,
"cds_start": 200,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Asn64Ser",
"transcript": "NM_001128128.3",
"protein_id": "NP_001121600.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1108,
"cds_start": 191,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Asn64Ser",
"transcript": "ENST00000446923.7",
"protein_id": "ENSP00000391612.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 1108,
"cds_start": 191,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Asn64Ser",
"transcript": "NM_001174094.2",
"protein_id": "NP_001167565.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1107,
"cds_start": 191,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "NM_001174093.2",
"protein_id": "NP_001167564.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1104,
"cds_start": 242,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "ENST00000560721.6",
"protein_id": "ENSP00000452787.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 1104,
"cds_start": 242,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Asn81Ser",
"transcript": "NM_001323674.2",
"protein_id": "NP_001310603.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1050,
"cds_start": 242,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"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": "ZEB1",
"gene_hgnc_id": 11642,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Asn67Ser",
"transcript": "NM_001323675.2",
"protein_id": "NP_001310604.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1036,
"cds_start": 200,
"cds_end": null,
"cds_length": 3111,
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],
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"acmg_by_gene": [
{
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"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}