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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: 1-61455362-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61455362&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61455362,
"ref": "C",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000403491.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1480C>A",
"hgvs_p": "p.Pro494Thr",
"transcript": "ENST00000371187.7",
"protein_id": "ENSP00000360229.3",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 498,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2683,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "NM_001134673.4",
"protein_id": "NP_001128145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "ENST00000403491.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000403491.8",
"protein_id": "ENSP00000384523.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9229,
"mane_select": "NM_001134673.4",
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000493627.1",
"protein_id": "ENSP00000474817.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1519C>A",
"hgvs_p": "p.Pro507Thr",
"transcript": "ENST00000482020.2",
"protein_id": "ENSP00000474806.2",
"transcript_support_level": 3,
"aa_start": 507,
"aa_end": null,
"aa_length": 511,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1480C>A",
"hgvs_p": "p.Pro494Thr",
"transcript": "NM_005595.5",
"protein_id": "NP_005586.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 498,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 9137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1456C>A",
"hgvs_p": "p.Pro486Thr",
"transcript": "ENST00000699964.1",
"protein_id": "ENSP00000514720.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 490,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"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": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.1234C>A",
"hgvs_p": "p.Pro412Thr",
"transcript": "ENST00000699967.1",
"protein_id": "ENSP00000514723.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 416,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.712C>A",
"hgvs_p": "p.Pro238Thr",
"transcript": "ENST00000663597.1",
"protein_id": "ENSP00000499597.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 242,
"cds_start": 712,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 2330,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*619C>A",
"hgvs_p": null,
"transcript": "ENST00000655770.1",
"protein_id": "ENSP00000499326.1",
"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": 3886,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*1196C>A",
"hgvs_p": null,
"transcript": "ENST00000662015.1",
"protein_id": "ENSP00000499312.1",
"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": 4676,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*1664C>A",
"hgvs_p": null,
"transcript": "ENST00000664495.1",
"protein_id": "ENSP00000499306.1",
"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": 4535,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*639C>A",
"hgvs_p": null,
"transcript": "ENST00000670151.1",
"protein_id": "ENSP00000499729.1",
"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": 4528,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "n.*163C>A",
"hgvs_p": null,
"transcript": "ENST00000699966.1",
"protein_id": "ENSP00000514722.1",
"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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"cdna_length": 3098,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "NM_001145512.2",
"protein_id": "NP_001138984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9338,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000371189.8",
"protein_id": "ENSP00000360231.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000699987.1",
"protein_id": "ENSP00000514740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
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"cdna_length": 3047,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000371191.5",
"protein_id": "ENSP00000360233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*2C>A",
"hgvs_p": null,
"transcript": "ENST00000699965.1",
"protein_id": "ENSP00000514721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*100C>A",
"hgvs_p": null,
"transcript": "ENST00000664149.1",
"protein_id": "ENSP00000499651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
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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": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "NM_001145511.2",
"protein_id": "NP_001138983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
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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": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000407417.7",
"protein_id": "ENSP00000384680.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2123,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIA",
"gene_hgnc_id": 7784,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000371185.6",
"protein_id": "ENSP00000360227.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
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}