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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: 19-44175587-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44175587&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44175587,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001032373.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001032373.2",
"protein_id": "NP_001027545.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "ENST00000337433.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000337433.10",
"protein_id": "ENSP00000336719.5",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "NM_001032373.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000454662.6",
"protein_id": "ENSP00000393265.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000590089.5",
"protein_id": "ENSP00000465121.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000590578.5",
"protein_id": "ENSP00000468779.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 126,
"cds_start": 325,
"cds_end": null,
"cds_length": 381,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*2600A>G",
"hgvs_p": null,
"transcript": "ENST00000588883.5",
"protein_id": "ENSP00000465401.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001032372.2",
"protein_id": "NP_001027544.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001319088.2",
"protein_id": "NP_001306017.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001319089.2",
"protein_id": "NP_001306018.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001319090.2",
"protein_id": "NP_001306019.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001388168.1",
"protein_id": "NP_001375097.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001388169.1",
"protein_id": "NP_001375098.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001388170.1",
"protein_id": "NP_001375099.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001388171.1",
"protein_id": "NP_001375100.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
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"cdna_start": 680,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_001388172.1",
"protein_id": "NP_001375101.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "NM_016444.3",
"protein_id": "NP_057528.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
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"cdna_start": 747,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Asn73Asp",
"transcript": "NM_001388178.1",
"protein_id": "NP_001375107.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 767,
"cds_start": 217,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000590524.1",
"protein_id": "ENSP00000467766.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 152,
"cds_start": 325,
"cds_end": null,
"cds_length": 459,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "ENST00000588127.5",
"protein_id": "ENSP00000466141.1",
"transcript_support_level": 4,
"aa_start": 109,
"aa_end": null,
"aa_length": 138,
"cds_start": 325,
"cds_end": null,
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"cdna_start": 475,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Asn73Asp",
"transcript": "ENST00000585678.5",
"protein_id": "ENSP00000465043.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 113,
"cds_start": 217,
"cds_end": null,
"cds_length": 342,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "XM_006723367.4",
"protein_id": "XP_006723430.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
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"cds_length": 2412,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "XM_006723368.4",
"protein_id": "XP_006723431.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 803,
"cds_start": 325,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Asn109Asp",
"transcript": "XM_047439374.1",
"protein_id": "XP_047295330.1",
"transcript_support_level": null,
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"phenotype_combined": "not specified",
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}
],
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}