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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: 1-99891292-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99891292&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGL",
"hgnc_id": 321,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000028.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1414,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3714175820350647,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7091,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000642.3",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361915.8",
"protein_coding": true,
"protein_id": "NP_000633.2",
"strand": true,
"transcript": "NM_000642.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7091,
"cdna_start": 3008,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000361915.8",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000642.3",
"protein_coding": true,
"protein_id": "ENSP00000355106.3",
"strand": true,
"transcript": "ENST00000361915.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 3363,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000294724.8",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294724.4",
"strand": true,
"transcript": "ENST00000294724.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7166,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000370163.7",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359182.3",
"strand": true,
"transcript": "ENST00000370163.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 3023,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000370165.7",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359184.3",
"strand": true,
"transcript": "ENST00000370165.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000361302.7",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "n.*2821C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000354971.4",
"strand": true,
"transcript": "ENST00000361302.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000637337.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "n.3096C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000637337.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000361302.7",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "n.*2821C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000354971.4",
"strand": true,
"transcript": "ENST00000361302.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7314,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000028.3",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000019.2",
"strand": true,
"transcript": "NM_000028.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7294,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000643.3",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000634.2",
"strand": true,
"transcript": "NM_000643.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7234,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000644.3",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000635.2",
"strand": true,
"transcript": "NM_000644.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7031,
"cdna_start": 2948,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001425325.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412254.1",
"strand": true,
"transcript": "NM_001425325.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7262,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000881254.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551313.1",
"strand": true,
"transcript": "ENST00000881254.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000881255.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551314.1",
"strand": true,
"transcript": "ENST00000881255.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7293,
"cdna_start": 3206,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000911800.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581859.1",
"strand": true,
"transcript": "ENST00000911800.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7512,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000965591.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635650.1",
"strand": true,
"transcript": "ENST00000965591.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7165,
"cdna_start": 3080,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000965592.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635651.1",
"strand": true,
"transcript": "ENST00000965592.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "S",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2885,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000965593.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ser962Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635652.1",
"strand": true,
"transcript": "ENST00000965593.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1528,
"aa_ref": "S",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7375,
"cdna_start": 3292,
"cds_end": null,
"cds_length": 4587,
"cds_start": 2873,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000965590.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2873C>T",
"hgvs_p": "p.Ser958Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635649.1",
"strand": true,
"transcript": "ENST00000965590.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "S",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7070,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 4578,
"cds_start": 2864,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001425326.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2864C>T",
"hgvs_p": "p.Ser955Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412255.1",
"strand": true,
"transcript": "NM_001425326.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "S",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7036,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 4578,
"cds_start": 2864,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000911802.1",
"gene_hgnc_id": 321,
"gene_symbol": "AGL",
"hgvs_c": "c.2864C>T",
"hgvs_p": "p.Ser955Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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