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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: 16-2973604-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2973604&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2973604,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000262300.13",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "NM_004203.5",
"protein_id": "NP_004194.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "ENST00000262300.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "ENST00000262300.13",
"protein_id": "ENSP00000262300.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "NM_004203.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "ENST00000431515.6",
"protein_id": "ENSP00000392855.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": -4,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "NM_001438149.1",
"protein_id": "NP_001425078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "NM_001438150.1",
"protein_id": "NP_001425079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "NM_001438151.1",
"protein_id": "NP_001425080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1284-389T>C",
"hgvs_p": null,
"transcript": "NM_001258451.2",
"protein_id": "NP_001245380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1284-389T>C",
"hgvs_p": null,
"transcript": "NM_001437991.1",
"protein_id": "NP_001424920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1284-389T>C",
"hgvs_p": null,
"transcript": "ENST00000573944.5",
"protein_id": "ENSP00000459123.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1284-389T>C",
"hgvs_p": null,
"transcript": "ENST00000574385.5",
"protein_id": "ENSP00000458943.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-351T>C",
"hgvs_p": null,
"transcript": "NM_182687.3",
"protein_id": "NP_872629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2099,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-351T>C",
"hgvs_p": null,
"transcript": "ENST00000440027.6",
"protein_id": "ENSP00000397739.2",
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"aa_start": null,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1104-389T>C",
"hgvs_p": null,
"transcript": "NM_001258450.2",
"protein_id": "NP_001245379.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1104-389T>C",
"hgvs_p": null,
"transcript": "ENST00000574730.5",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.*2-389T>C",
"hgvs_p": null,
"transcript": "ENST00000575040.1",
"protein_id": "ENSP00000459880.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "n.1284-159T>C",
"hgvs_p": null,
"transcript": "ENST00000382240.9",
"protein_id": "ENSP00000371675.5",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": false,
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],
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"intron_rank": 3,
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"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "n.578-389T>C",
"hgvs_p": null,
"transcript": "ENST00000575981.1",
"protein_id": null,
"transcript_support_level": 2,
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"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1338-389T>C",
"hgvs_p": null,
"transcript": "XM_047434868.1",
"protein_id": "XP_047290824.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 508,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1338-389T>C",
"hgvs_p": null,
"transcript": "XM_047434869.1",
"protein_id": "XP_047290825.1",
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},
{
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"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "PKMYT1",
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"hgvs_c": "c.1338-389T>C",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PKMYT1",
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"hgvs_c": "c.1338-389T>C",
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"transcript": "XM_047434871.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1338-389T>C",
"hgvs_p": null,
"transcript": "XM_047434872.1",
"protein_id": "XP_047290828.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.1311-389T>C",
"hgvs_p": null,
"transcript": "XM_011522734.4",
"protein_id": "XP_011521036.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 499,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2085,
"mane_select": null,
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}