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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: 1-3507824-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3507824&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3507824,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356575.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"transcript": "NM_001409.4",
"protein_id": "NP_001400.3",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1760,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "ENST00000356575.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"transcript": "ENST00000356575.9",
"protein_id": "ENSP00000348982.4",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 1541,
"cds_start": 1760,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "NM_001409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "ENST00000294599.8",
"protein_id": "ENSP00000294599.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1445,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "NM_001410718.1",
"protein_id": "NP_001397647.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1436,
"cds_start": 1445,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 7054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "ENST00000697102.1",
"protein_id": "ENSP00000513108.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1436,
"cds_start": 1445,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Pro649Leu",
"transcript": "XM_011540886.3",
"protein_id": "XP_011539188.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1560,
"cds_start": 1946,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "XM_017000533.3",
"protein_id": "XP_016856022.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1559,
"cds_start": 1814,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "XM_047448204.1",
"protein_id": "XP_047304160.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1637,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"transcript": "XM_047448205.1",
"protein_id": "XP_047304161.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1498,
"cds_start": 1760,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"transcript": "XM_047448215.1",
"protein_id": "XP_047304171.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1497,
"cds_start": 1760,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "XM_047448217.1",
"protein_id": "XP_047304173.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1457,
"cds_start": 1637,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "XM_047448220.1",
"protein_id": "XP_047304176.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1456,
"cds_start": 1637,
"cds_end": null,
"cds_length": 4371,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"transcript": "XM_047448221.1",
"protein_id": "XP_047304177.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1454,
"cds_start": 1760,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 7182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1628C>T",
"hgvs_p": "p.Pro543Leu",
"transcript": "XM_047448228.1",
"protein_id": "XP_047304184.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1453,
"cds_start": 1628,
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"cds_length": 4362,
"cdna_start": 1868,
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"cdna_length": 7179,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Pro546Leu",
"transcript": "XM_047448229.1",
"protein_id": "XP_047304185.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 1413,
"cds_start": 1637,
"cds_end": null,
"cds_length": 4242,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1628C>T",
"hgvs_p": "p.Pro543Leu",
"transcript": "XM_047448232.1",
"protein_id": "XP_047304188.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
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"cds_start": 1628,
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"cdna_start": 1868,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Pro441Leu",
"transcript": "XM_011540887.3",
"protein_id": "XP_011539189.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1322,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "XM_047448238.1",
"protein_id": "XP_047304194.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1393,
"cds_start": 1445,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 1611,
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"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "XM_047448239.1",
"protein_id": "XP_047304195.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1392,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Pro649Leu",
"transcript": "XM_011540888.4",
"protein_id": "XP_011539190.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1364,
"cds_start": 1946,
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"cdna_start": 2321,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Pro441Leu",
"transcript": "XM_047448242.1",
"protein_id": "XP_047304198.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1351,
"cds_start": 1322,
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"cds_length": 4056,
"cdna_start": 1488,
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"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "XM_047448245.1",
"protein_id": "XP_047304201.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 1349,
"cds_start": 1445,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
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{
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}