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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: 22-50076841-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50076841&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50076841,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_015166.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_015166.4",
"protein_id": "NP_055981.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311597.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015166.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000311597.10",
"protein_id": "ENSP00000310375.6",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015166.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311597.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000395876.6",
"protein_id": "ENSP00000379216.2",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395876.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376472.1",
"protein_id": "NP_001363401.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376472.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376473.1",
"protein_id": "NP_001363402.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376473.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376474.1",
"protein_id": "NP_001363403.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376474.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376475.1",
"protein_id": "NP_001363404.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376475.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376476.1",
"protein_id": "NP_001363405.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376476.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376477.1",
"protein_id": "NP_001363406.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376477.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376478.1",
"protein_id": "NP_001363407.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376478.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_139202.3",
"protein_id": "NP_631941.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139202.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879262.1",
"protein_id": "ENSP00000549321.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879262.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879263.1",
"protein_id": "ENSP00000549322.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879263.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879267.1",
"protein_id": "ENSP00000549327.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879267.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879270.1",
"protein_id": "ENSP00000549329.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879270.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879274.1",
"protein_id": "ENSP00000549333.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879274.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879275.1",
"protein_id": "ENSP00000549334.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 377,
"cds_start": 597,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879275.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "NM_001376479.1",
"protein_id": "NP_001363408.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 358,
"cds_start": 597,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376479.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Ser199Ser",
"transcript": "ENST00000879271.1",
"protein_id": "ENSP00000549330.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 358,
"cds_start": 597,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879271.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Ser169Ser",
"transcript": "NM_001376480.1",
"protein_id": "NP_001363409.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 507,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376480.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.495A>G",
"hgvs_p": "p.Ser165Ser",
"transcript": "NM_001376481.1",
"protein_id": "NP_001363410.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 343,
"cds_start": 495,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376481.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP7",
"BA1"
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"transcript": "NM_015166.4",
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"effects": [
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],
"clinvar_disease": "Megalencephalic leukoencephalopathy with subcortical cysts,Megalencephalic leukoencephalopathy with subcortical cysts 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Megalencephalic leukoencephalopathy with subcortical cysts 1|Megalencephalic leukoencephalopathy with subcortical cysts|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}