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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: 12-81263311-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=81263311&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 81263311,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003625.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "NM_003625.5",
"protein_id": "NP_003616.2",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549396.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003625.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "ENST00000549396.6",
"protein_id": "ENSP00000450337.1",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003625.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549396.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3617T>C",
"hgvs_p": "p.Met1206Thr",
"transcript": "ENST00000548586.5",
"protein_id": "ENSP00000449338.1",
"transcript_support_level": 1,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548586.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "ENST00000550584.6",
"protein_id": "ENSP00000449558.2",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550584.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3572T>C",
"hgvs_p": "p.Met1191Thr",
"transcript": "ENST00000552948.5",
"protein_id": "ENSP00000447868.1",
"transcript_support_level": 1,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552948.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3617T>C",
"hgvs_p": "p.Met1206Thr",
"transcript": "NM_001220476.2",
"protein_id": "NP_001207405.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220476.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "NM_001220473.3",
"protein_id": "NP_001207402.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220473.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3572T>C",
"hgvs_p": "p.Met1191Thr",
"transcript": "NM_001220475.2",
"protein_id": "NP_001207404.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220475.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3590T>C",
"hgvs_p": "p.Met1197Thr",
"transcript": "NM_001220474.3",
"protein_id": "NP_001207403.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220474.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3590T>C",
"hgvs_p": "p.Met1197Thr",
"transcript": "ENST00000549325.5",
"protein_id": "ENSP00000450298.1",
"transcript_support_level": 5,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549325.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Met1111Thr",
"transcript": "NM_001220477.2",
"protein_id": "NP_001207406.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3332,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220477.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3332T>C",
"hgvs_p": "p.Met1111Thr",
"transcript": "ENST00000407050.8",
"protein_id": "ENSP00000385093.4",
"transcript_support_level": 2,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3332,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407050.8"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3320T>C",
"hgvs_p": "p.Met1107Thr",
"transcript": "NM_001220478.2",
"protein_id": "NP_001207407.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220478.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3320T>C",
"hgvs_p": "p.Met1107Thr",
"transcript": "ENST00000333447.11",
"protein_id": "ENSP00000327416.8",
"transcript_support_level": 5,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333447.11"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3320T>C",
"hgvs_p": "p.Met1107Thr",
"transcript": "ENST00000443686.7",
"protein_id": "ENSP00000388373.3",
"transcript_support_level": 2,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443686.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3176T>C",
"hgvs_p": "p.Met1059Thr",
"transcript": "NM_001282536.1",
"protein_id": "NP_001269465.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282536.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3176T>C",
"hgvs_p": "p.Met1059Thr",
"transcript": "ENST00000550359.6",
"protein_id": "ENSP00000447273.2",
"transcript_support_level": 2,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550359.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2243T>C",
"hgvs_p": "p.Met748Thr",
"transcript": "NM_001220479.3",
"protein_id": "NP_001207408.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 783,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220479.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.2243T>C",
"hgvs_p": "p.Met748Thr",
"transcript": "ENST00000541570.6",
"protein_id": "ENSP00000438337.2",
"transcript_support_level": 2,
"aa_start": 748,
"aa_end": null,
"aa_length": 783,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541570.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Met398Thr",
"transcript": "NM_001220480.3",
"protein_id": "NP_001207409.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 443,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001220480.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Met398Thr",
"transcript": "ENST00000541017.5",
"protein_id": "ENSP00000445532.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 443,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541017.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIA2",
"gene_hgnc_id": 9246,
"hgvs_c": "c.3644T>C",
"hgvs_p": "p.Met1215Thr",
"transcript": "XM_047429770.1",
"protein_id": "XP_047285726.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
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