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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: 2-207124071-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207124071&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 207124071,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003709.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_003709.4",
"protein_id": "NP_003700.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309446.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003709.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000309446.11",
"protein_id": "ENSP00000309570.6",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003709.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309446.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Cys",
"transcript": "ENST00000421199.5",
"protein_id": "ENSP00000387510.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 269,
"cds_start": 337,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421199.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000423015.5",
"protein_id": "ENSP00000398572.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423015.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.163+273C>T",
"hgvs_p": null,
"transcript": "ENST00000458272.2",
"protein_id": "ENSP00000393268.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458272.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000874451.1",
"protein_id": "ENSP00000544510.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 303,
"cds_start": 436,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874451.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000948505.1",
"protein_id": "ENSP00000618564.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 303,
"cds_start": 436,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948505.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000874448.1",
"protein_id": "ENSP00000544507.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874448.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000874449.1",
"protein_id": "ENSP00000544508.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874449.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "NM_001270944.2",
"protein_id": "NP_001257873.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 274,
"cds_start": 352,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270944.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "ENST00000435602.2",
"protein_id": "ENSP00000413590.2",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 274,
"cds_start": 352,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435602.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Cys",
"transcript": "NM_001270943.2",
"protein_id": "NP_001257872.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 269,
"cds_start": 337,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270943.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000703689.1",
"protein_id": "ENSP00000515426.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 256,
"cds_start": 436,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703689.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_001270942.1",
"protein_id": "NP_001257871.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270942.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_001438026.1",
"protein_id": "NP_001424955.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438026.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000703734.1",
"protein_id": "ENSP00000515454.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 230,
"cds_start": 436,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703734.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Arg113Cys",
"transcript": "ENST00000703736.1",
"protein_id": "ENSP00000515456.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 125,
"cds_start": 337,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703736.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_017005161.2",
"protein_id": "XP_016860650.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005161.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047446144.1",
"protein_id": "XP_047302100.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446144.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047446145.1",
"protein_id": "XP_047302101.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446145.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047446146.1",
"protein_id": "XP_047302102.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446146.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "XM_047446147.1",
"protein_id": "XP_047302103.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 302,
"cds_start": 436,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446147.1"
},
{
"aa_ref": "R",
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}
],
"message": null
}