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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: 1-52896578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52896578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52896578,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198961.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_001198961.2",
"protein_id": "NP_001185890.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 292,
"cds_start": 821,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371522.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198961.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000371522.9",
"protein_id": "ENSP00000360577.4",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 292,
"cds_start": 821,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001198961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371522.9"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*1032G>A",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"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": "ENST00000371520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*1032G>A",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"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": "ENST00000371520.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315Gln",
"transcript": "ENST00000958445.1",
"protein_id": "ENSP00000628504.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 333,
"cds_start": 944,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958445.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309Gln",
"transcript": "ENST00000874988.1",
"protein_id": "ENSP00000545047.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 327,
"cds_start": 926,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874988.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "ENST00000874990.1",
"protein_id": "ENSP00000545049.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 293,
"cds_start": 824,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874990.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"transcript": "ENST00000874986.1",
"protein_id": "ENSP00000545045.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 291,
"cds_start": 818,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874986.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"transcript": "ENST00000958441.1",
"protein_id": "ENSP00000628500.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 291,
"cds_start": 818,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958441.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000874981.1",
"protein_id": "ENSP00000545040.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 290,
"cds_start": 815,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874981.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270Gln",
"transcript": "ENST00000874976.1",
"protein_id": "ENSP00000545035.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 288,
"cds_start": 809,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874976.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259Gln",
"transcript": "ENST00000874997.1",
"protein_id": "ENSP00000545056.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 277,
"cds_start": 776,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874997.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258Gln",
"transcript": "ENST00000874973.1",
"protein_id": "ENSP00000545032.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 276,
"cds_start": 773,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874973.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000874977.1",
"protein_id": "ENSP00000545036.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 275,
"cds_start": 770,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874977.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000874984.1",
"protein_id": "ENSP00000545043.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 275,
"cds_start": 770,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874984.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000958443.1",
"protein_id": "ENSP00000628502.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 275,
"cds_start": 770,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958443.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Arg256Gln",
"transcript": "ENST00000874995.1",
"protein_id": "ENSP00000545054.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 274,
"cds_start": 767,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874995.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Arg256Gln",
"transcript": "ENST00000958442.1",
"protein_id": "ENSP00000628501.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 274,
"cds_start": 767,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958442.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000874974.1",
"protein_id": "ENSP00000545033.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 273,
"cds_start": 764,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874974.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254Gln",
"transcript": "ENST00000874982.1",
"protein_id": "ENSP00000545041.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 272,
"cds_start": 761,
"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": "ENST00000874982.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251Gln",
"transcript": "ENST00000929358.1",
"protein_id": "ENSP00000599417.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 269,
"cds_start": 752,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929358.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000874992.1",
"protein_id": "ENSP00000545051.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 263,
"cds_start": 734,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
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"transcript": "NM_001198961.2",
"gene_symbol": "ECHDC2",
"hgnc_id": 23408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln"
}
],
"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
}