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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: 14-23423970-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23423970&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23423970,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000257.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "NM_000257.4",
"protein_id": "NP_000248.2",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000257.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000355349.4",
"protein_id": "ENSP00000347507.3",
"transcript_support_level": 1,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000257.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355349.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858540.1",
"protein_id": "ENSP00000528599.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1950,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858540.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965955.1",
"protein_id": "ENSP00000636014.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1950,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965955.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000713768.1",
"protein_id": "ENSP00000519070.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1944,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713768.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2886C>T",
"hgvs_p": "p.Asp962Asp",
"transcript": "ENST00000858547.1",
"protein_id": "ENSP00000528606.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1944,
"cds_start": 2886,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858547.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2883C>T",
"hgvs_p": "p.Asp961Asp",
"transcript": "ENST00000965946.1",
"protein_id": "ENSP00000636005.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1943,
"cds_start": 2883,
"cds_end": null,
"cds_length": 5832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965946.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2874C>T",
"hgvs_p": "p.Asp958Asp",
"transcript": "ENST00000858544.1",
"protein_id": "ENSP00000528603.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1940,
"cds_start": 2874,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858544.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "NM_001407004.1",
"protein_id": "NP_001393933.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407004.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000713769.1",
"protein_id": "ENSP00000519071.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713769.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858541.1",
"protein_id": "ENSP00000528600.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858541.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858545.1",
"protein_id": "ENSP00000528604.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858545.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858546.1",
"protein_id": "ENSP00000528605.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858546.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858549.1",
"protein_id": "ENSP00000528608.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858549.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858550.1",
"protein_id": "ENSP00000528609.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858550.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000858551.1",
"protein_id": "ENSP00000528610.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858551.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965935.1",
"protein_id": "ENSP00000635994.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965935.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965936.1",
"protein_id": "ENSP00000635995.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965936.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965937.1",
"protein_id": "ENSP00000635996.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965937.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965938.1",
"protein_id": "ENSP00000635997.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965938.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965941.1",
"protein_id": "ENSP00000636000.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965941.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp",
"transcript": "ENST00000965942.1",
"protein_id": "ENSP00000636001.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1935,
"cds_start": 2859,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
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"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000257.4",
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2859C>T",
"hgvs_p": "p.Asp953Asp"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "Hypertrophic cardiomyopathy|Cardiomyopathy|not provided|Cardiovascular phenotype|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}