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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: 18-72749072-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=72749072&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 72749072,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138966.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "NM_138966.5",
"protein_id": "NP_620416.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 6721,
"mane_select": "ENST00000327305.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138966.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "ENST00000327305.11",
"protein_id": "ENSP00000313088.6",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 6721,
"mane_select": "NM_138966.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327305.11"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "ENST00000583169.5",
"protein_id": "ENSP00000464312.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583169.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1642T>C",
"hgvs_p": "p.Ser548Pro",
"transcript": "ENST00000916241.1",
"protein_id": "ENSP00000586300.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 561,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916241.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1597T>C",
"hgvs_p": "p.Ser533Pro",
"transcript": "ENST00000876951.1",
"protein_id": "ENSP00000547010.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 546,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876951.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "NM_001201465.3",
"protein_id": "NP_001188394.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201465.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "NM_001354017.2",
"protein_id": "NP_001340946.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354017.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "ENST00000916239.1",
"protein_id": "ENSP00000586298.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916239.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "ENST00000916240.1",
"protein_id": "ENSP00000586299.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916240.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1534T>C",
"hgvs_p": "p.Ser512Pro",
"transcript": "NM_001354020.2",
"protein_id": "NP_001340949.2",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 525,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354020.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "NM_001354018.2",
"protein_id": "NP_001340947.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 391,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354018.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "XM_017026017.2",
"protein_id": "XP_016881506.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026017.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "XM_017026018.2",
"protein_id": "XP_016881507.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 533,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026018.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Ser378Pro",
"transcript": "XM_047437876.1",
"protein_id": "XP_047293832.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 391,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "n.2254T>C",
"hgvs_p": null,
"transcript": "NR_148694.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148694.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "n.1984T>C",
"hgvs_p": null,
"transcript": "NR_148695.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6498,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148695.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"hgvs_c": "c.-36T>C",
"hgvs_p": null,
"transcript": "ENST00000582281.1",
"protein_id": "ENSP00000462993.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2,
"cds_start": null,
"cds_end": null,
"cds_length": 9,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582281.1"
}
],
"gene_symbol": "NETO1",
"gene_hgnc_id": 13823,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6994454264640808,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3886,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.907,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138966.5",
"gene_symbol": "NETO1",
"hgnc_id": 13823,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}