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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: 10-812942-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=812942&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 812942,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015155.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"transcript": "NM_015155.3",
"protein_id": "NP_055970.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "ENST00000316157.8",
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"transcript": "ENST00000316157.8",
"protein_id": "ENSP00000326128.3",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2518,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "NM_015155.3",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.3712C>T",
"hgvs_p": null,
"transcript": "ENST00000609318.5",
"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": 4848,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.5192C>T",
"hgvs_p": "p.Pro1731Leu",
"transcript": "ENST00000689323.1",
"protein_id": "ENSP00000510165.1",
"transcript_support_level": null,
"aa_start": 1731,
"aa_end": null,
"aa_length": 1735,
"cds_start": 5192,
"cds_end": null,
"cds_length": 5208,
"cdna_start": 5253,
"cdna_end": null,
"cdna_length": 8646,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "NM_001351277.2",
"protein_id": "NP_001338206.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 8651,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2054C>T",
"hgvs_p": "p.Pro685Leu",
"transcript": "ENST00000688365.1",
"protein_id": "ENSP00000509705.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 689,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 3396,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "ENST00000448368.5",
"protein_id": "ENSP00000394545.1",
"transcript_support_level": 4,
"aa_start": 334,
"aa_end": null,
"aa_length": 338,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1438,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3806C>T",
"hgvs_p": "p.Pro1269Leu",
"transcript": "XM_017015987.2",
"protein_id": "XP_016871476.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3806,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3872,
"cdna_end": null,
"cdna_length": 9900,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.3701C>T",
"hgvs_p": "p.Pro1234Leu",
"transcript": "XM_017015988.2",
"protein_id": "XP_016871477.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3717,
"cdna_start": 3767,
"cdna_end": null,
"cdna_length": 9795,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "XM_017015990.2",
"protein_id": "XP_016871479.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 11825,
"cdna_end": null,
"cdna_length": 17853,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "XM_047424892.1",
"protein_id": "XP_047280848.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 19331,
"cdna_end": null,
"cdna_length": 25359,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "XM_047424893.1",
"protein_id": "XP_047280849.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 5560,
"cdna_end": null,
"cdna_length": 11588,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "XM_047424894.1",
"protein_id": "XP_047280850.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 8822,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2306C>T",
"hgvs_p": "p.Pro769Leu",
"transcript": "XM_047424895.1",
"protein_id": "XP_047280851.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 773,
"cds_start": 2306,
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"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 9242,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"transcript": "XM_047424896.1",
"protein_id": "XP_047280852.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 19226,
"cdna_end": null,
"cdna_length": 25254,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Pro734Leu",
"transcript": "XM_047424897.1",
"protein_id": "XP_047280853.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 738,
"cds_start": 2201,
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"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 8717,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1835C>T",
"hgvs_p": "p.Pro612Leu",
"transcript": "XM_017015992.2",
"protein_id": "XP_016871481.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 616,
"cds_start": 1835,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 7966,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Pro577Leu",
"transcript": "XM_047424902.1",
"protein_id": "XP_047280858.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 581,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 7809,
"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": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.2489C>T",
"hgvs_p": null,
"transcript": "ENST00000688042.1",
"protein_id": null,
"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": 5882,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*1573C>T",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"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": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*225C>T",
"hgvs_p": null,
"transcript": "ENST00000690211.1",
"protein_id": "ENSP00000509846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2212,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*1573C>T",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"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": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
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"verdict": "Uncertain_significance",
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}
],
"message": null
}