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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: 6-87514471-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87514471&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87514471,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350505.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1679G>T",
"hgvs_p": "p.Arg560Leu",
"transcript": "NM_020320.5",
"protein_id": "NP_064716.2",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 578,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369536.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020320.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1679G>T",
"hgvs_p": "p.Arg560Leu",
"transcript": "ENST00000369536.10",
"protein_id": "ENSP00000358549.5",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 578,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369536.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1769G>T",
"hgvs_p": "p.Arg590Leu",
"transcript": "ENST00000687437.1",
"protein_id": "ENSP00000508968.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 608,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687437.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1679G>T",
"hgvs_p": "p.Arg560Leu",
"transcript": "NM_001350505.2",
"protein_id": "NP_001337434.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 588,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350505.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1679G>T",
"hgvs_p": "p.Arg560Leu",
"transcript": "ENST00000691725.1",
"protein_id": "ENSP00000509453.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 588,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691725.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1694G>T",
"hgvs_p": "p.Arg565Leu",
"transcript": "ENST00000879834.1",
"protein_id": "ENSP00000549893.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 583,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879834.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1268G>T",
"hgvs_p": "p.Arg423Leu",
"transcript": "ENST00000451155.2",
"protein_id": "ENSP00000389656.2",
"transcript_support_level": 3,
"aa_start": 423,
"aa_end": null,
"aa_length": 441,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451155.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350506.2",
"protein_id": "NP_001337435.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 413,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350506.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000693431.1",
"protein_id": "ENSP00000509147.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 413,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693431.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001318785.2",
"protein_id": "NP_001305714.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318785.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350507.2",
"protein_id": "NP_001337436.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350507.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350508.2",
"protein_id": "NP_001337437.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350508.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350509.2",
"protein_id": "NP_001337438.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350509.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350510.2",
"protein_id": "NP_001337439.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350510.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "NM_001350511.2",
"protein_id": "NP_001337440.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350511.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000685408.1",
"protein_id": "ENSP00000509026.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685408.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000689174.1",
"protein_id": "ENSP00000510542.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689174.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000692684.1",
"protein_id": "ENSP00000509712.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692684.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Arg385Leu",
"transcript": "ENST00000693327.1",
"protein_id": "ENSP00000509195.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 403,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693327.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Arg366Leu",
"transcript": "ENST00000687729.1",
"protein_id": "ENSP00000508582.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 384,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687729.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.740G>T",
"hgvs_p": "p.Arg247Leu",
"transcript": "ENST00000686154.1",
"protein_id": "ENSP00000508436.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 275,
"cds_start": 740,
"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": "ENST00000686154.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.740G>T",
"hgvs_p": "p.Arg247Leu",
"transcript": "ENST00000689206.1",
"protein_id": "ENSP00000510495.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 275,
"cds_start": 740,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 6,
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"PP3_Moderate"
],
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"effects": [
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}