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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: 11-3825024-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3825024&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3825024,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014489.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "NM_014489.4",
"protein_id": "NP_055304.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 315,
"cds_start": 713,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278243.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014489.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "ENST00000278243.9",
"protein_id": "ENSP00000278243.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 315,
"cds_start": 713,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014489.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278243.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000300730.10",
"protein_id": "ENSP00000300730.6",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 307,
"cds_start": 689,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300730.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.62G>C",
"hgvs_p": "p.Arg21Pro",
"transcript": "ENST00000396993.8",
"protein_id": "ENSP00000380190.6",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 98,
"cds_start": 62,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396993.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*444G>C",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"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": "ENST00000528216.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*444G>C",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"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": "ENST00000528216.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "NM_001256236.2",
"protein_id": "NP_001243165.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 315,
"cds_start": 713,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256236.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Arg238Pro",
"transcript": "ENST00000464906.6",
"protein_id": "ENSP00000434631.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 315,
"cds_start": 713,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464906.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Arg234Pro",
"transcript": "ENST00000396986.6",
"protein_id": "ENSP00000380183.2",
"transcript_support_level": 2,
"aa_start": 234,
"aa_end": null,
"aa_length": 311,
"cds_start": 701,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396986.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.683G>C",
"hgvs_p": "p.Arg228Pro",
"transcript": "NM_001346397.2",
"protein_id": "NP_001333326.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 305,
"cds_start": 683,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346397.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Pro",
"transcript": "NM_001346402.2",
"protein_id": "NP_001333331.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 294,
"cds_start": 650,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346402.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "ENST00000864245.1",
"protein_id": "ENSP00000534304.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 282,
"cds_start": 614,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864245.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "ENST00000864251.1",
"protein_id": "ENSP00000534310.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 282,
"cds_start": 614,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864251.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.584G>C",
"hgvs_p": "p.Arg195Pro",
"transcript": "NM_001256235.2",
"protein_id": "NP_001243164.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 272,
"cds_start": 584,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256235.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.584G>C",
"hgvs_p": "p.Arg195Pro",
"transcript": "ENST00000396991.6",
"protein_id": "ENSP00000380188.3",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 272,
"cds_start": 584,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396991.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "NM_001256240.2",
"protein_id": "NP_001243169.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256240.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "NM_001283038.2",
"protein_id": "NP_001269967.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283038.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "NM_001346398.2",
"protein_id": "NP_001333327.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346398.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "NM_001346405.1",
"protein_id": "NP_001333334.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346405.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "ENST00000463452.6",
"protein_id": "ENSP00000435223.1",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463452.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "ENST00000864246.1",
"protein_id": "ENSP00000534305.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864246.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "ENST00000864248.1",
"protein_id": "ENSP00000534307.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 254,
"cds_start": 530,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864248.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
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"bayesdelnoaf_score": -0.05,
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"clinvar_classification": "Pathogenic",
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"phenotype_combined": "Hyperphosphatasia with intellectual disability syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}