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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: 16-4797840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4797840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4797840,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_024589.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Phe232Phe",
"transcript": "NM_024589.3",
"protein_id": "NP_078865.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 287,
"cds_start": 696,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322048.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024589.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.696C>T",
"hgvs_p": "p.Phe232Phe",
"transcript": "ENST00000322048.12",
"protein_id": "ENSP00000322832.6",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 287,
"cds_start": 696,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024589.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322048.12"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142*",
"transcript": "ENST00000586504.5",
"protein_id": "ENSP00000465076.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 215,
"cds_start": 424,
"cds_end": null,
"cds_length": 649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586504.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.735C>T",
"hgvs_p": "p.Ser245Ser",
"transcript": "ENST00000907806.1",
"protein_id": "ENSP00000577865.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 300,
"cds_start": 735,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907806.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Ser239Ser",
"transcript": "ENST00000912071.1",
"protein_id": "ENSP00000582130.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 294,
"cds_start": 717,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912071.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Ser238Ser",
"transcript": "ENST00000968425.1",
"protein_id": "ENSP00000638484.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 293,
"cds_start": 714,
"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": "ENST00000968425.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.711C>T",
"hgvs_p": "p.Ser237Ser",
"transcript": "ENST00000907805.1",
"protein_id": "ENSP00000577864.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 292,
"cds_start": 711,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907805.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000912072.1",
"protein_id": "ENSP00000582131.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 286,
"cds_start": 693,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912072.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.693C>T",
"hgvs_p": "p.Phe231Phe",
"transcript": "ENST00000912073.1",
"protein_id": "ENSP00000582132.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 286,
"cds_start": 693,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912073.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.690C>T",
"hgvs_p": "p.Phe230Phe",
"transcript": "ENST00000907810.1",
"protein_id": "ENSP00000577869.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 285,
"cds_start": 690,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907810.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Phe229Phe",
"transcript": "ENST00000907809.1",
"protein_id": "ENSP00000577868.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 284,
"cds_start": 687,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907809.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Ser215Ser",
"transcript": "ENST00000907808.1",
"protein_id": "ENSP00000577867.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 270,
"cds_start": 645,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907808.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Phe208Phe",
"transcript": "ENST00000907804.1",
"protein_id": "ENSP00000577863.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 263,
"cds_start": 624,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907804.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Phe199Phe",
"transcript": "ENST00000968427.1",
"protein_id": "ENSP00000638486.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 254,
"cds_start": 597,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968427.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.624C>T",
"hgvs_p": "p.Phe208Phe",
"transcript": "ENST00000591392.5",
"protein_id": "ENSP00000467509.1",
"transcript_support_level": 3,
"aa_start": 208,
"aa_end": null,
"aa_length": 252,
"cds_start": 624,
"cds_end": null,
"cds_length": 761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591392.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Phe186Phe",
"transcript": "ENST00000907807.1",
"protein_id": "ENSP00000577866.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 241,
"cds_start": 558,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907807.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Phe162Phe",
"transcript": "ENST00000907811.1",
"protein_id": "ENSP00000577870.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 217,
"cds_start": 486,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907811.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Phe127Phe",
"transcript": "ENST00000587711.5",
"protein_id": "ENSP00000467459.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 170,
"cds_start": 381,
"cds_end": null,
"cds_length": 514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587711.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Ser239Ser",
"transcript": "XM_006720947.5",
"protein_id": "XP_006721010.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 294,
"cds_start": 717,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720947.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Ser149Ser",
"transcript": "XM_047434636.1",
"protein_id": "XP_047290592.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 204,
"cds_start": 447,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.646-103C>T",
"hgvs_p": null,
"transcript": "ENST00000968426.1",
"protein_id": "ENSP00000638485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ROGDI",
"gene_hgnc_id": 29478,
"hgvs_c": "c.342-4C>T",
"hgvs_p": null,
"transcript": "ENST00000586153.1",
"protein_id": "ENSP00000464699.1",
"transcript_support_level": 5,
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Amelocerebrohypohidrotic syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
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}