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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: 1-84182252-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=84182252&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 84182252,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182948.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "NM_182948.4",
"protein_id": "NP_891993.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 398,
"cds_start": 302,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370685.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182948.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "ENST00000370685.7",
"protein_id": "ENSP00000359719.3",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 398,
"cds_start": 302,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182948.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370685.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000614872.4",
"protein_id": "ENSP00000479722.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 357,
"cds_start": 179,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614872.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Ser54Leu",
"transcript": "ENST00000370689.6",
"protein_id": "ENSP00000359723.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 351,
"cds_start": 161,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370689.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000370680.5",
"protein_id": "ENSP00000359714.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 264,
"cds_start": 179,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370680.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Ser54Leu",
"transcript": "ENST00000370688.7",
"protein_id": "ENSP00000359722.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 257,
"cds_start": 161,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370688.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "ENST00000892503.1",
"protein_id": "ENSP00000562562.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 427,
"cds_start": 302,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892503.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "ENST00000892502.1",
"protein_id": "ENSP00000562561.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 414,
"cds_start": 302,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892502.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "ENST00000892501.1",
"protein_id": "ENSP00000562560.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 365,
"cds_start": 302,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892501.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Ser61Leu",
"transcript": "NM_001242857.3",
"protein_id": "NP_001229786.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 358,
"cds_start": 182,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242857.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Ser61Leu",
"transcript": "ENST00000446538.5",
"protein_id": "ENSP00000401252.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 358,
"cds_start": 182,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446538.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "NM_001242860.3",
"protein_id": "NP_001229789.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 357,
"cds_start": 179,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242860.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Leu",
"transcript": "NM_001242859.3",
"protein_id": "NP_001229788.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 355,
"cds_start": 173,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242859.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Leu",
"transcript": "ENST00000436133.6",
"protein_id": "ENSP00000390906.2",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 355,
"cds_start": 173,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436133.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ser57Leu",
"transcript": "NM_001375560.1",
"protein_id": "NP_001362489.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 354,
"cds_start": 170,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375560.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Ser54Leu",
"transcript": "NM_002731.4",
"protein_id": "NP_002722.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 351,
"cds_start": 161,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002731.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Ser53Leu",
"transcript": "NM_001375562.1",
"protein_id": "NP_001362491.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 350,
"cds_start": 158,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375562.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Ser52Leu",
"transcript": "NM_001375561.1",
"protein_id": "NP_001362490.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 349,
"cds_start": 155,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375561.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ser50Leu",
"transcript": "NM_001375563.1",
"protein_id": "NP_001362492.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 347,
"cds_start": 149,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375563.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Ser49Leu",
"transcript": "NM_001375564.1",
"protein_id": "NP_001362493.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 346,
"cds_start": 146,
"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_001375564.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ser42Leu",
"transcript": "NM_001242858.3",
"protein_id": "NP_001229787.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 339,
"cds_start": 125,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242858.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKACB",
"gene_hgnc_id": 9381,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Ser42Leu",
"transcript": "ENST00000610703.4",
"protein_id": "ENSP00000481980.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 339,
"cds_start": 125,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cardioacrofacial dysplasia 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}