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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: X-20010951-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20010951&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20010951,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001168465.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Arg725Gln",
"transcript": "NM_001168465.2",
"protein_id": "NP_001161937.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 773,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379643.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168465.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Arg725Gln",
"transcript": "ENST00000379643.10",
"protein_id": "ENSP00000368964.5",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 773,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168465.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379643.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000379651.7",
"protein_id": "ENSP00000368972.3",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 732,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379651.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Arg750Gln",
"transcript": "ENST00000970014.1",
"protein_id": "ENSP00000640074.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 798,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970014.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"transcript": "ENST00000970005.1",
"protein_id": "ENSP00000640064.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 765,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970005.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"transcript": "ENST00000970009.1",
"protein_id": "ENSP00000640069.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 765,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970009.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2126G>A",
"hgvs_p": "p.Arg709Gln",
"transcript": "ENST00000875378.1",
"protein_id": "ENSP00000545437.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 757,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875378.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2117G>A",
"hgvs_p": "p.Arg706Gln",
"transcript": "ENST00000970001.1",
"protein_id": "ENSP00000640062.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 754,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970001.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2096G>A",
"hgvs_p": "p.Arg699Gln",
"transcript": "ENST00000918363.1",
"protein_id": "ENSP00000588422.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 747,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918363.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698Gln",
"transcript": "ENST00000875379.1",
"protein_id": "ENSP00000545438.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 746,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875379.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "NM_152780.4",
"protein_id": "NP_689993.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 732,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152780.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Arg683Gln",
"transcript": "ENST00000970017.1",
"protein_id": "ENSP00000640076.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 731,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970017.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "ENST00000970007.1",
"protein_id": "ENSP00000640066.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 728,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970007.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2015G>A",
"hgvs_p": "p.Arg672Gln",
"transcript": "ENST00000875380.1",
"protein_id": "ENSP00000545439.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 720,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875380.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1982G>A",
"hgvs_p": "p.Arg661Gln",
"transcript": "ENST00000970016.1",
"protein_id": "ENSP00000640075.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 709,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970016.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Arg657Gln",
"transcript": "ENST00000970012.1",
"protein_id": "ENSP00000640071.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 705,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970012.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "NM_001168466.2",
"protein_id": "NP_001161938.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 687,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168466.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1916G>A",
"hgvs_p": "p.Arg639Gln",
"transcript": "ENST00000443379.7",
"protein_id": "ENSP00000388239.3",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 687,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443379.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632Gln",
"transcript": "NM_001168467.2",
"protein_id": "NP_001161939.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 680,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168467.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632Gln",
"transcript": "ENST00000452324.3",
"protein_id": "ENSP00000413301.3",
"transcript_support_level": 2,
"aa_start": 632,
"aa_end": null,
"aa_length": 680,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452324.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758Gln",
"transcript": "XM_006724481.3",
"protein_id": "XP_006724544.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 806,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724481.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D2",
"gene_hgnc_id": 25899,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "XM_011545483.2",
"protein_id": "XP_011543785.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 795,
"cds_start": 2240,
"cds_end": null,
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"phenotype_combined": "not specified",
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}
],
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}