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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: 14-103699416-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103699416&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103699416,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005432.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_005432.4",
"protein_id": "NP_005423.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555055.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005432.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000555055.6",
"protein_id": "ENSP00000452598.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005432.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555055.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000352127.11",
"protein_id": "ENSP00000343392.7",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352127.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1849-1239G>C",
"hgvs_p": null,
"transcript": "NM_001394837.1",
"protein_id": "NP_001381766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334553.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1849-1239G>C",
"hgvs_p": null,
"transcript": "ENST00000334553.11",
"protein_id": "ENSP00000334523.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394837.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334553.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.1651-1239G>C",
"hgvs_p": null,
"transcript": "ENST00000348520.10",
"protein_id": "ENSP00000341154.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": null,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348520.10"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_001100118.2",
"protein_id": "NP_001093588.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100118.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_001100119.2",
"protein_id": "NP_001093589.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100119.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_001371229.1",
"protein_id": "NP_001358158.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371229.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_001371231.1",
"protein_id": "NP_001358160.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371231.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_001371232.1",
"protein_id": "NP_001358161.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371232.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000553264.5",
"protein_id": "ENSP00000451974.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553264.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000554913.5",
"protein_id": "ENSP00000451362.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554913.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881941.1",
"protein_id": "ENSP00000552000.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881941.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881942.1",
"protein_id": "ENSP00000552001.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881942.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881943.1",
"protein_id": "ENSP00000552002.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881943.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881944.1",
"protein_id": "ENSP00000552003.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881944.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881945.1",
"protein_id": "ENSP00000552004.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881945.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881946.1",
"protein_id": "ENSP00000552005.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881946.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881947.1",
"protein_id": "ENSP00000552006.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881947.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881948.1",
"protein_id": "ENSP00000552007.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881948.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000881949.1",
"protein_id": "ENSP00000552008.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 346,
"cds_start": 722,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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}
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}