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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: 7-128967366-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128967366&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128967366,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000265388.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2625C>T",
"hgvs_p": "p.Ser875Ser",
"transcript": "NM_012470.4",
"protein_id": "NP_036602.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 923,
"cds_start": 2625,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "ENST00000265388.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2625C>T",
"hgvs_p": "p.Ser875Ser",
"transcript": "ENST00000265388.10",
"protein_id": "ENSP00000265388.5",
"transcript_support_level": 1,
"aa_start": 875,
"aa_end": null,
"aa_length": 923,
"cds_start": 2625,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "NM_012470.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.Ser811Ser",
"transcript": "ENST00000471234.5",
"protein_id": "ENSP00000418646.1",
"transcript_support_level": 1,
"aa_start": 811,
"aa_end": null,
"aa_length": 859,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2807,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2427C>T",
"hgvs_p": "p.Ser809Ser",
"transcript": "ENST00000482320.5",
"protein_id": "ENSP00000420089.1",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 857,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2727C>T",
"hgvs_p": "p.Ser909Ser",
"transcript": "NM_001382216.1",
"protein_id": "NP_001369145.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 957,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2727C>T",
"hgvs_p": "p.Ser909Ser",
"transcript": "ENST00000471166.1",
"protein_id": "ENSP00000418267.1",
"transcript_support_level": 5,
"aa_start": 909,
"aa_end": null,
"aa_length": 957,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2727C>T",
"hgvs_p": "p.Ser909Ser",
"transcript": "ENST00000627585.2",
"protein_id": "ENSP00000487231.1",
"transcript_support_level": 2,
"aa_start": 909,
"aa_end": null,
"aa_length": 957,
"cds_start": 2727,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2706C>T",
"hgvs_p": "p.Ser902Ser",
"transcript": "NM_001382217.1",
"protein_id": "NP_001369146.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 950,
"cds_start": 2706,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2625C>T",
"hgvs_p": "p.Ser875Ser",
"transcript": "NM_001382218.1",
"protein_id": "NP_001369147.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 909,
"cds_start": 2625,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2517C>T",
"hgvs_p": "p.Ser839Ser",
"transcript": "NM_001382219.1",
"protein_id": "NP_001369148.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 887,
"cds_start": 2517,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Ser828Ser",
"transcript": "NM_001382220.1",
"protein_id": "NP_001369149.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 876,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2481C>T",
"hgvs_p": "p.Ser827Ser",
"transcript": "NM_001382221.1",
"protein_id": "NP_001369150.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 875,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2478C>T",
"hgvs_p": "p.Ser826Ser",
"transcript": "NM_001382222.1",
"protein_id": "NP_001369151.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 874,
"cds_start": 2478,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.Ser811Ser",
"transcript": "NM_001191028.3",
"protein_id": "NP_001177957.2",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 859,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2433C>T",
"hgvs_p": "p.Ser811Ser",
"transcript": "NM_001382223.1",
"protein_id": "NP_001369152.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 845,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2427C>T",
"hgvs_p": "p.Ser809Ser",
"transcript": "XM_047420091.1",
"protein_id": "XP_047276047.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 857,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2427C>T",
"hgvs_p": "p.Ser809Ser",
"transcript": "XM_047420092.1",
"protein_id": "XP_047276048.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 857,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 8788,
"cdna_end": null,
"cdna_length": 10167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3127C>T",
"hgvs_p": null,
"transcript": "NR_034053.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3214C>T",
"hgvs_p": null,
"transcript": "NR_167911.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3072C>T",
"hgvs_p": null,
"transcript": "NR_167912.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.2874C>T",
"hgvs_p": null,
"transcript": "NR_167913.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3034C>T",
"hgvs_p": null,
"transcript": "NR_167914.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3290C>T",
"hgvs_p": null,
"transcript": "NR_167915.1",
"protein_id": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Autosomal dominant limb-girdle muscular dystrophy type 1F",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
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}