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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: 7-151564208-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151564208&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151564208,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000287878.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1454A>C",
"hgvs_p": "p.Lys485Thr",
"transcript": "NM_016203.4",
"protein_id": "NP_057287.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 569,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "ENST00000287878.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1454A>C",
"hgvs_p": "p.Lys485Thr",
"transcript": "ENST00000287878.9",
"protein_id": "ENSP00000287878.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 569,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": "NM_016203.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Lys441Thr",
"transcript": "ENST00000392801.6",
"protein_id": "ENSP00000376549.2",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 525,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Lys244Thr",
"transcript": "ENST00000418337.6",
"protein_id": "ENSP00000387386.2",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 328,
"cds_start": 731,
"cds_end": null,
"cds_length": 987,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1454A>C",
"hgvs_p": "p.Lys485Thr",
"transcript": "NM_001407021.1",
"protein_id": "NP_001393950.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 619,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Lys484Thr",
"transcript": "NM_001407022.1",
"protein_id": "NP_001393951.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 618,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Lys484Thr",
"transcript": "NM_001407023.1",
"protein_id": "NP_001393952.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 568,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1451A>C",
"hgvs_p": "p.Lys484Thr",
"transcript": "ENST00000652321.2",
"protein_id": "ENSP00000498886.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 568,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Lys441Thr",
"transcript": "NM_001040633.2",
"protein_id": "NP_001035723.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 525,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Lys441Thr",
"transcript": "NM_001407024.1",
"protein_id": "NP_001393953.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 525,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Lys441Thr",
"transcript": "ENST00000651764.1",
"protein_id": "ENSP00000498796.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 525,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1322A>C",
"hgvs_p": "p.Lys441Thr",
"transcript": "ENST00000652159.1",
"protein_id": "ENSP00000499025.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 525,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.Lys440Thr",
"transcript": "NM_001407026.1",
"protein_id": "NP_001393955.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 524,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.Lys440Thr",
"transcript": "NM_001407027.1",
"protein_id": "NP_001393956.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 524,
"cds_start": 1319,
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"cdna_start": 1901,
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"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1319A>C",
"hgvs_p": "p.Lys440Thr",
"transcript": "ENST00000652047.1",
"protein_id": "ENSP00000499111.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 524,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1082A>C",
"hgvs_p": "p.Lys361Thr",
"transcript": "NM_001407028.1",
"protein_id": "NP_001393957.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
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"cds_start": 1082,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1079A>C",
"hgvs_p": "p.Lys360Thr",
"transcript": "NM_001407029.1",
"protein_id": "NP_001393958.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 494,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1166A>C",
"hgvs_p": "p.Lys389Thr",
"transcript": "NM_001407030.1",
"protein_id": "NP_001393959.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 473,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1661,
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"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1163A>C",
"hgvs_p": "p.Lys388Thr",
"transcript": "NM_001407031.1",
"protein_id": "NP_001393960.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
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"cdna_start": 1658,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1136A>C",
"hgvs_p": "p.Lys379Thr",
"transcript": "NM_001407032.1",
"protein_id": "NP_001393961.1",
"transcript_support_level": null,
"aa_start": 379,
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"aa_length": 463,
"cds_start": 1136,
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"cdna_start": 1432,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1130A>C",
"hgvs_p": "p.Lys377Thr",
"transcript": "NM_001407033.1",
"protein_id": "NP_001393962.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 461,
"cds_start": 1130,
"cds_end": null,
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"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAG2",
"gene_hgnc_id": 9386,
"hgvs_c": "c.1082A>C",
"hgvs_p": "p.Lys361Thr",
"transcript": "NM_001363698.2",
"protein_id": "NP_001350627.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 445,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"phenotype_combined": "Hypertrophic cardiomyopathy 6",
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}
],
"message": null
}