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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: 2-213007690-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213007690&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 213007690,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001387220.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1251C>G",
"hgvs_p": "p.His417Gln",
"transcript": "NM_001387220.1",
"protein_id": "NP_001374149.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 526,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 9562,
"mane_select": "ENST00000434687.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1251C>G",
"hgvs_p": "p.His417Gln",
"transcript": "ENST00000434687.6",
"protein_id": "ENSP00000412869.1",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 526,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 9562,
"mane_select": "NM_001387220.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.His423Gln",
"transcript": "ENST00000342002.6",
"protein_id": "ENSP00000342876.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 532,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.His391Gln",
"transcript": "ENST00000374319.8",
"protein_id": "ENSP00000363439.4",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 500,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2001,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*909C>G",
"hgvs_p": null,
"transcript": "ENST00000374326.7",
"protein_id": "ENSP00000363446.3",
"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": 1401,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1245C>G",
"hgvs_p": null,
"transcript": "ENST00000412444.5",
"protein_id": "ENSP00000413680.1",
"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": 1737,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*730C>G",
"hgvs_p": null,
"transcript": "ENST00000431520.5",
"protein_id": "ENSP00000396253.1",
"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": 1780,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*983C>G",
"hgvs_p": null,
"transcript": "ENST00000439848.5",
"protein_id": "ENSP00000389548.1",
"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": 1763,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1098C>G",
"hgvs_p": null,
"transcript": "ENST00000453575.5",
"protein_id": "ENSP00000411444.1",
"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": 1594,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.1883C>G",
"hgvs_p": null,
"transcript": "ENST00000484040.1",
"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": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*909C>G",
"hgvs_p": null,
"transcript": "ENST00000374326.7",
"protein_id": "ENSP00000363446.3",
"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": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1245C>G",
"hgvs_p": null,
"transcript": "ENST00000412444.5",
"protein_id": "ENSP00000413680.1",
"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": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*730C>G",
"hgvs_p": null,
"transcript": "ENST00000431520.5",
"protein_id": "ENSP00000396253.1",
"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,
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"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*983C>G",
"hgvs_p": null,
"transcript": "ENST00000439848.5",
"protein_id": "ENSP00000389548.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "n.*1098C>G",
"hgvs_p": null,
"transcript": "ENST00000453575.5",
"protein_id": "ENSP00000411444.1",
"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,
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"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1251C>G",
"hgvs_p": "p.His417Gln",
"transcript": "NM_001371274.1",
"protein_id": "NP_001358203.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
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"cds_start": 1251,
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"cdna_start": 1597,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1251C>G",
"hgvs_p": "p.His417Gln",
"transcript": "NM_016260.3",
"protein_id": "NP_057344.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 526,
"cds_start": 1251,
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"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 9515,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.His391Gln",
"transcript": "NM_001079526.2",
"protein_id": "NP_001072994.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 500,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 9484,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.His391Gln",
"transcript": "NM_001371275.1",
"protein_id": "NP_001358204.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.His391Gln",
"transcript": "NM_001371276.1",
"protein_id": "NP_001358205.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 500,
"cds_start": 1173,
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"cdna_start": 1388,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"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": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.1026C>G",
"hgvs_p": "p.His342Gln",
"transcript": "NM_001371277.1",
"protein_id": "NP_001358206.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 451,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 9364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.His302Gln",
"transcript": "ENST00000457361.5",
"protein_id": "ENSP00000410447.2",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 411,
"cds_start": 906,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"hgvs_c": "c.900C>G",
"hgvs_p": "p.His300Gln",
"transcript": "ENST00000451136.6",
"protein_id": "ENSP00000395203.3",
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273118",
"gene_hgnc_id": null,
"hgvs_c": "n.81+13775C>G",
"hgvs_p": null,
"transcript": "ENST00000415387.1",
"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,
"cdna_end": null,
"cdna_length": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IKZF2",
"gene_hgnc_id": 13177,
"dbsnp": "rs1695482697",
"frequency_reference_population": 0.0000013683859,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136839,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11168047785758972,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.1177,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.333,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387220.1",
"gene_symbol": "IKZF2",
"hgnc_id": 13177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.1251C>G",
"hgvs_p": "p.His417Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000415387.1",
"gene_symbol": "ENSG00000273118",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81+13775C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}