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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: 1-52899212-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52899212&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ECHDC2",
"hgnc_id": 23408,
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001198961.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2503,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4627622961997986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 292,
"aa_ref": "V",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 782,
"cds_end": null,
"cds_length": 879,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001198961.2",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371522.9",
"protein_coding": true,
"protein_id": "NP_001185890.1",
"strand": false,
"transcript": "NM_001198961.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 292,
"aa_ref": "V",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 782,
"cds_end": null,
"cds_length": 879,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371522.9",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198961.2",
"protein_coding": true,
"protein_id": "ENSP00000360577.4",
"strand": false,
"transcript": "ENST00000371522.9",
"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": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371520.5",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "n.*926G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000360575.1",
"strand": false,
"transcript": "ENST00000371520.5",
"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": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000371520.5",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "n.*926G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000360575.1",
"strand": false,
"transcript": "ENST00000371520.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 333,
"aa_ref": "V",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1002,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000958445.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.838G>T",
"hgvs_p": "p.Val280Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628504.1",
"strand": false,
"transcript": "ENST00000958445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "V",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 921,
"cds_end": null,
"cds_length": 984,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000874988.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.820G>T",
"hgvs_p": "p.Val274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545047.1",
"strand": false,
"transcript": "ENST00000874988.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 293,
"aa_ref": "V",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 803,
"cds_end": null,
"cds_length": 882,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874990.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.718G>T",
"hgvs_p": "p.Val240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545049.1",
"strand": false,
"transcript": "ENST00000874990.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 291,
"aa_ref": "V",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 745,
"cds_end": null,
"cds_length": 876,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874986.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Val238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545045.1",
"strand": false,
"transcript": "ENST00000874986.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 291,
"aa_ref": "V",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 797,
"cds_end": null,
"cds_length": 876,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958441.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Val238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628500.1",
"strand": false,
"transcript": "ENST00000958441.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 290,
"aa_ref": "V",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 790,
"cds_end": null,
"cds_length": 873,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874981.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Val237Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545040.1",
"strand": false,
"transcript": "ENST00000874981.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 288,
"aa_ref": "V",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 838,
"cds_end": null,
"cds_length": 867,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874976.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.703G>T",
"hgvs_p": "p.Val235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545035.1",
"strand": false,
"transcript": "ENST00000874976.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 277,
"aa_ref": "V",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 748,
"cds_end": null,
"cds_length": 834,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874997.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.718G>T",
"hgvs_p": "p.Val240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545056.1",
"strand": false,
"transcript": "ENST00000874997.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 276,
"aa_ref": "V",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 932,
"cds_end": null,
"cds_length": 831,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874973.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Val239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545032.1",
"strand": false,
"transcript": "ENST00000874973.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 275,
"aa_ref": "V",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 777,
"cds_end": null,
"cds_length": 828,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874984.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Val238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545043.1",
"strand": false,
"transcript": "ENST00000874984.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 275,
"aa_ref": "V",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 796,
"cds_end": null,
"cds_length": 828,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958443.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.712G>T",
"hgvs_p": "p.Val238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628502.1",
"strand": false,
"transcript": "ENST00000958443.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 274,
"aa_ref": "V",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 762,
"cds_end": null,
"cds_length": 825,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874995.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Val237Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545054.1",
"strand": false,
"transcript": "ENST00000874995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 273,
"aa_ref": "V",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 873,
"cds_end": null,
"cds_length": 822,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874974.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.658G>T",
"hgvs_p": "p.Val220Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545033.1",
"strand": false,
"transcript": "ENST00000874974.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "V",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 778,
"cds_end": null,
"cds_length": 819,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874982.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.703G>T",
"hgvs_p": "p.Val235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545041.1",
"strand": false,
"transcript": "ENST00000874982.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "V",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 679,
"cds_end": null,
"cds_length": 810,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929358.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Val216Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599417.1",
"strand": false,
"transcript": "ENST00000929358.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 263,
"aa_ref": "V",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 695,
"cds_end": null,
"cds_length": 792,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874992.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.628G>T",
"hgvs_p": "p.Val210Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545051.1",
"strand": false,
"transcript": "ENST00000874992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "V",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 842,
"cds_end": null,
"cds_length": 789,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874987.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.625G>T",
"hgvs_p": "p.Val209Leu",
"intron_rank": null,
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