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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: 10-97460102-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97460102&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97460102,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001351356.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "NM_022362.5",
"protein_id": "NP_071757.4",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438925.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022362.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000438925.7",
"protein_id": "ENSP00000412698.2",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022362.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438925.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000370782.6",
"protein_id": "ENSP00000359818.1",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370782.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2471G>C",
"hgvs_p": "p.Arg824Pro",
"transcript": "ENST00000355839.10",
"protein_id": "ENSP00000348097.6",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 987,
"cds_start": 2471,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355839.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "n.*2413G>C",
"hgvs_p": null,
"transcript": "ENST00000415383.5",
"protein_id": "ENSP00000395045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415383.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "n.*2413G>C",
"hgvs_p": null,
"transcript": "ENST00000415383.5",
"protein_id": "ENSP00000395045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415383.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2732G>C",
"hgvs_p": "p.Arg911Pro",
"transcript": "ENST00000896606.1",
"protein_id": "ENSP00000566665.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896606.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2717G>C",
"hgvs_p": "p.Arg906Pro",
"transcript": "NM_001351356.2",
"protein_id": "NP_001338285.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2717,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351356.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2711G>C",
"hgvs_p": "p.Arg904Pro",
"transcript": "ENST00000933291.1",
"protein_id": "ENSP00000603350.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2711,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933291.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000896592.1",
"protein_id": "ENSP00000566651.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896592.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2597G>C",
"hgvs_p": "p.Arg866Pro",
"transcript": "ENST00000896590.1",
"protein_id": "ENSP00000566649.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2597,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896590.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2615G>C",
"hgvs_p": "p.Arg872Pro",
"transcript": "ENST00000896597.1",
"protein_id": "ENSP00000566656.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2615,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896597.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2606G>C",
"hgvs_p": "p.Arg869Pro",
"transcript": "ENST00000896593.1",
"protein_id": "ENSP00000566652.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896593.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2603G>C",
"hgvs_p": "p.Arg868Pro",
"transcript": "ENST00000896604.1",
"protein_id": "ENSP00000566663.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896604.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "NM_001289405.2",
"protein_id": "NP_001276334.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289405.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000896588.1",
"protein_id": "ENSP00000566647.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896588.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000933288.1",
"protein_id": "ENSP00000603347.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933288.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2597G>C",
"hgvs_p": "p.Arg866Pro",
"transcript": "ENST00000896589.1",
"protein_id": "ENSP00000566648.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2597,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896589.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2573G>C",
"hgvs_p": "p.Arg858Pro",
"transcript": "ENST00000896599.1",
"protein_id": "ENSP00000566658.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2573,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896599.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2588G>C",
"hgvs_p": "p.Arg863Pro",
"transcript": "ENST00000896600.1",
"protein_id": "ENSP00000566659.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2588,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896600.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2588G>C",
"hgvs_p": "p.Arg863Pro",
"transcript": "ENST00000896607.1",
"protein_id": "ENSP00000566666.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2588,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896607.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS19",
"gene_hgnc_id": 13824,
"hgvs_c": "c.2585G>C",
"hgvs_p": "p.Arg862Pro",
"transcript": "ENST00000933289.1",
"protein_id": "ENSP00000603348.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2585,
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}