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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: 16-69690942-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69690942&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69690942,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000349945.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "NM_138713.4",
"protein_id": "NP_619727.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1549,
"cds_start": 1777,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 13289,
"mane_select": "ENST00000349945.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "ENST00000349945.7",
"protein_id": "ENSP00000338806.3",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 1549,
"cds_start": 1777,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 13289,
"mane_select": "NM_138713.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1774A>G",
"hgvs_p": "p.Met592Val",
"transcript": "ENST00000567239.5",
"protein_id": "ENSP00000457593.1",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1774,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1723A>G",
"hgvs_p": "p.Met575Val",
"transcript": "ENST00000354436.6",
"protein_id": "ENSP00000346420.2",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1723,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 13229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000393742.7",
"protein_id": "ENSP00000377343.3",
"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": 13067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000426654.6",
"protein_id": "ENSP00000413126.2",
"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": 14219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000566899.6",
"protein_id": "ENSP00000455628.2",
"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": 4914,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000393742.7",
"protein_id": "ENSP00000377343.3",
"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": 13067,
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000426654.6",
"protein_id": "ENSP00000413126.2",
"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": 14219,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "n.*1539A>G",
"hgvs_p": null,
"transcript": "ENST00000566899.6",
"protein_id": "ENSP00000455628.2",
"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": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1774A>G",
"hgvs_p": "p.Met592Val",
"transcript": "NM_001113178.3",
"protein_id": "NP_001106649.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1774,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 13286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1723A>G",
"hgvs_p": "p.Met575Val",
"transcript": "NM_006599.4",
"protein_id": "NP_006590.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1723,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 13235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Met499Val",
"transcript": "NM_138714.4",
"protein_id": "NP_619728.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1495,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 13351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Met499Val",
"transcript": "NM_173214.3",
"protein_id": "NP_775321.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1495,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 13297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Met499Val",
"transcript": "NM_173215.3",
"protein_id": "NP_775322.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1495,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Met368Val",
"transcript": "NM_001367709.1",
"protein_id": "NP_001354638.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 1324,
"cds_start": 1102,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 12813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Met574Val",
"transcript": "XM_011522817.4",
"protein_id": "XP_011521119.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 1530,
"cds_start": 1720,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 13232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1591A>G",
"hgvs_p": "p.Met531Val",
"transcript": "XM_047433510.1",
"protein_id": "XP_047289466.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1591,
"cds_end": null,
"cds_length": 4464,
"cdna_start": 15220,
"cdna_end": null,
"cdna_length": 26396,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1591A>G",
"hgvs_p": "p.Met531Val",
"transcript": "XM_047433511.1",
"protein_id": "XP_047289467.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1591,
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"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 13304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1588A>G",
"hgvs_p": "p.Met530Val",
"transcript": "XM_047433513.1",
"protein_id": "XP_047289469.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1486,
"cds_start": 1588,
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"cdna_start": 15217,
"cdna_end": null,
"cdna_length": 26393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1495A>G",
"hgvs_p": "p.Met499Val",
"transcript": "XM_047433512.1",
"protein_id": "XP_047289468.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1495,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 14771,
"cdna_end": null,
"cdna_length": 25947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFAT5",
"gene_hgnc_id": 7774,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Met369Val",
"transcript": "XM_011522820.4",
"protein_id": "XP_011521122.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1325,
"cds_start": 1105,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 12436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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],
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "Immunodeficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Immunodeficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}