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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: 8-124606962-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124606962&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124606962,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000518547.6",
"consequences": [
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_014751.6",
"protein_id": "NP_055566.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "ENST00000518547.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "ENST00000518547.6",
"protein_id": "ENSP00000429064.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "NM_014751.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "ENST00000378017.7",
"protein_id": "ENSP00000367256.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902016",
"gene_hgnc_id": null,
"hgvs_c": "n.226T>A",
"hgvs_p": null,
"transcript": "XR_007061087.1",
"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": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902016",
"gene_hgnc_id": null,
"hgvs_c": "n.226T>A",
"hgvs_p": null,
"transcript": "XR_007061088.1",
"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": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_001282971.2",
"protein_id": "NP_001269900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "ENST00000325064.9",
"protein_id": "ENSP00000322804.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_001363294.2",
"protein_id": "NP_001350223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_001363295.2",
"protein_id": "NP_001350224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_001363296.2",
"protein_id": "NP_001350225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
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"cds_length": 2205,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "NM_001363297.2",
"protein_id": "NP_001350226.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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"transcript": "NM_001282974.2",
"protein_id": "NP_001269903.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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"transcript": "NM_001363298.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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},
{
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],
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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"transcript": "NM_001363300.2",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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"transcript": "NM_001363302.2",
"protein_id": "NP_001350231.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.191-15727A>T",
"hgvs_p": null,
"transcript": "ENST00000522162.1",
"protein_id": "ENSP00000429752.1",
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"aa_start": null,
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},
{
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "MTSS1",
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"hgvs_c": "n.213+12305A>T",
"hgvs_p": null,
"transcript": "ENST00000519671.1",
"protein_id": null,
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},
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],
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},
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],
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"gene_symbol": "MTSS1",
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"transcript": "XM_005251111.3",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
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"transcript": "XM_006716700.3",
"protein_id": "XP_006716763.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
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"hgvs_c": "c.209-15727A>T",
"hgvs_p": null,
"transcript": "XM_006716701.3",
"protein_id": "XP_006716764.1",
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